SAPA - SNP Annotation Programm for AML

All annotated SNPs are listed below, see SAPA GIT for details.

Invert Colors

ID	Chr	Pos	Ref	Alt	Type	Context	Consequence	dbSNP	COSMIC	ClinVar	Qual	Alt Freq [%]	Total Depth	Ref Depth	Alt Depth	Strand Bias	Chr	Start	End	Ref	Alt	Func_refGene	Gene_refGene	GeneDetail_refGene	ExonicFunc_refGene	AAChange_refGene	cytoBand	esp6500siv2_all	avsnp147	SIFT_score	SIFT_pred	Polyphen2_HDIV_score	Polyphen2_HDIV_pred	Polyphen2_HVAR_score	Polyphen2_HVAR_pred	LRT_score	LRT_pred	MutationTaster_score	MutationTaster_pred	MutationAssessor_score	MutationAssessor_pred	FATHMM_score	FATHMM_pred	PROVEAN_score	PROVEAN_pred	VEST3_score	CADD_raw	CADD_phred	DANN_score	fathmm_MKL_coding_score	fathmm_MKL_coding_pred	MetaSVM_score	MetaSVM_pred	MetaLR_score	MetaLR_pred	integrated_fitCons_score	integrated_confidence_value	GERP_RS	phyloP7way_vertebrate	phyloP20way_mammalian	phastCons7way_vertebrate	phastCons20way_mammalian	SiPhy_29way_logOdds	final prediction
1735	19	11100286	G	A	Pathogenic/Likely pathogenic	LDLR	.	.	.	.	.	.	.	.	.	.	19	11100286	11100286	G	A	exonic	LDLR	.	stopgain	LDLR:NM_000527:exon2:c.G131A:p.W44X,LDLR:NM_001195798:exon2:c.G131A:p.W44X,LDLR:NM_001195799:exon2:c.G131A:p.W44X,LDLR:NM_001195800:exon2:c.G131A:p.W44X,LDLR:NM_001195803:exon2:c.G131A:p.W44X	19p13.2	.	rs267607213	.	.	.	.	.	.	0.000	D	1	A	.	.	.	.	.	.	.	11.263	37	0.995	0.977	D	.	.	.	.	0.646	0	5.37	0.917	0.998	0.984	0.979	17.874	Deleterious (FATHMM)
1736	19	11102662	A	G	Pathogenic/Likely pathogenic	LDLR	.	.	.	.	.	.	.	.	.	.	19	11102662	11102662	A	G	splicing	LDLR	NM_001195803:exon3:c.191-2A>G,NM_001195798:exon3:c.191-2A>G,NM_000527:exon3:c.191-2A>G,NM_001195800:exon3:c.191-2A>G	.	.	19p13.2	.	rs544203837	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	3.519	23.1	0.983	0.992	D	.	.	.	.	0.284	0	5.59	1.062	1.140	0.703	0.429	14.730	Deleterious (FATHMM)
1737	19	11102732	T	G	Pathogenic/Likely pathogenic	LDLR	.	.	.	.	.	.	.	.	.	.	19	11102732	11102732	T	G	exonic	LDLR	.	nonsynonymous SNV	LDLR:NM_000527:exon3:c.T259G:p.W87G,LDLR:NM_001195798:exon3:c.T259G:p.W87G,LDLR:NM_001195800:exon3:c.T259G:p.W87G,LDLR:NM_001195803:exon3:c.T259G:p.W87G	19p13.2	.	rs121908025	0.101	T	1.0	D	0.999	D	0.000	D	1	D	3.5	M	-3.96	D	-6.51	D	0.967	6.073	28.1	0.979	0.975	D	1.101	D	0.954	D	0.672	0	5.65	0.991	1.011	0.503	0.892	14.85	Deleterious
1738	19	11102734	G	A	Pathogenic	LDLR	.	.	.	.	.	.	.	.	.	.	19	11102734	11102734	G	A	exonic	LDLR	.	stopgain	LDLR:NM_000527:exon3:c.G261A:p.W87X,LDLR:NM_001195798:exon3:c.G261A:p.W87X,LDLR:NM_001195800:exon3:c.G261A:p.W87X,LDLR:NM_001195803:exon3:c.G261A:p.W87X	19p13.2	.	rs199570811	.	.	.	.	.	.	0.000	D	1	A	.	.	.	.	.	.	.	11.567	37	0.995	0.974	D	.	.	.	.	0.672	0	5.65	0.917	0.998	0.527	0.885	18.490	Deleterious (FATHMM)
1739	19	11102774	G	A	Pathogenic/Likely pathogenic, not provided	LDLR	.	.	.	.	.	.	.	.	.	.	19	11102774	11102774	G	A	exonic	LDLR	.	nonsynonymous SNV	LDLR:NM_000527:exon3:c.G301A:p.E101K,LDLR:NM_001195798:exon3:c.G301A:p.E101K,LDLR:NM_001195800:exon3:c.G301A:p.E101K,LDLR:NM_001195803:exon3:c.G301A:p.E101K	19p13.2	7.7e-05	rs144172724	0.025	D	1.0	D	1.0	D	0.000	D	1	D	4.735	H	-4.61	D	-3.61	D	0.908	5.916	27.5	0.999	0.980	D	1.034	D	0.979	D	0.672	0	4.6	0.917	0.998	0.517	0.718	15.669	Deleterious
1740	19	11102787	G	T	Pathogenic/Likely pathogenic	LDLR	.	.	.	.	.	.	.	.	.	.	19	11102787	11102787	G	T	splicing	LDLR	NM_001195803:exon3:c.313+1G>T,NM_001195798:exon3:c.313+1G>T,NM_000527:exon3:c.313+1G>T,NM_001195800:exon3:c.313+1G>T	.	.	19p13.2	.	rs112029328	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	3.622	23.2	0.973	0.983	D	.	.	.	.	0.284	0	5.65	0.917	0.998	0.581	0.896	18.490	Deleterious (FATHMM)
1741	19	11102787	G	C	Pathogenic/Likely pathogenic	LDLR	.	.	.	.	.	.	.	.	.	.	19	11102787	11102787	G	C	splicing	LDLR	NM_001195803:exon3:c.313+1G>C,NM_001195798:exon3:c.313+1G>C,NM_000527:exon3:c.313+1G>C,NM_001195800:exon3:c.313+1G>C	.	.	19p13.2	.	rs112029328	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	3.520	23.1	0.974	0.984	D	.	.	.	.	0.284	0	5.65	0.917	0.998	0.581	0.896	18.490	Deleterious (FATHMM)
1742	19	11102787	G	A	Pathogenic/Likely pathogenic, not provided	LDLR	.	.	.	.	.	.	.	.	.	.	19	11102787	11102787	G	A	splicing	LDLR	NM_001195803:exon3:c.313+1G>A,NM_001195798:exon3:c.313+1G>A,NM_000527:exon3:c.313+1G>A,NM_001195800:exon3:c.313+1G>A	.	.	19p13.2	.	rs112029328	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	3.841	23.4	0.974	0.977	D	.	.	.	.	0.284	0	5.65	0.917	0.998	0.581	0.896	18.490	Deleterious (FATHMM)
1743	19	11105232	G	A	Pathogenic/Likely pathogenic	LDLR	.	.	.	.	.	.	.	.	.	.	19	11105232	11105232	G	A	exonic	LDLR	.	nonsynonymous SNV	LDLR:NM_001195799:exon3:c.G203A:p.C68Y,LDLR:NM_000527:exon4:c.G326A:p.C109Y,LDLR:NM_001195798:exon4:c.G326A:p.C109Y	19p13.2	.	rs121908042	0.001	D	1.0	D	0.997	D	0.000	D	1	D	4.405	H	-6.07	D	-9.33	D	0.991	5.272	25.7	0.986	0.999	D	0.961	D	0.991	D	0.672	0	5.33	0.917	0.994	0.982	0.523	17.769	Deleterious
1744	19	11105243	G	T	Pathogenic/Likely pathogenic	LDLR	.	.	.	.	.	.	.	.	.	.	19	11105243	11105243	G	T	exonic	LDLR	.	stopgain	LDLR:NM_001195799:exon3:c.G214T:p.E72X,LDLR:NM_000527:exon4:c.G337T:p.E113X,LDLR:NM_001195798:exon4:c.G337T:p.E113X	19p13.2	.	.	.	.	.	.	.	.	0.149	N	1	A	.	.	.	.	.	.	.	9.506	35	0.997	0.994	D	.	.	.	.	0.672	0	1.72	-0.044	0.994	0.961	0.690	9.788	Deleterious (FATHMM)
1745	19	11105366	C	T	Pathogenic/Likely pathogenic	LDLR	.	.	.	.	.	.	.	.	.	.	19	11105366	11105366	C	T	exonic	LDLR	.	stopgain	LDLR:NM_001195799:exon3:c.C337T:p.Q113X,LDLR:NM_000527:exon4:c.C460T:p.Q154X,LDLR:NM_001195798:exon4:c.C460T:p.Q154X	19p13.2	.	.	.	.	.	.	.	.	0.057	N	1	A	.	.	.	.	.	.	.	10.832	36	0.997	0.996	D	.	.	.	.	0.672	0	5.6	0.871	0.888	0.312	0.048	18.374	Deleterious (FATHMM)
1746	19	11105407	C	A	Pathogenic/Likely pathogenic	LDLR	.	.	.	.	.	.	.	.	.	.	19	11105407	11105407	C	A	exonic	LDLR	.	stopgain	LDLR:NM_001195799:exon3:c.C378A:p.C126X,LDLR:NM_000527:exon4:c.C501A:p.C167X,LDLR:NM_001195798:exon4:c.C501A:p.C167X	19p13.2	.	rs752596535	.	.	.	.	.	.	0.000	D	1	A	.	.	.	.	.	.	.	7.093	33	0.982	0.908	D	.	.	.	.	0.672	0	-3.96	-0.032	-1.540	0.452	0.015	12.223	Deleterious (FATHMM)
1747	19	11105408	G	C	Pathogenic/Likely pathogenic	LDLR	.	.	.	.	.	.	.	.	.	.	19	11105408	11105408	G	C	exonic	LDLR	.	nonsynonymous SNV	LDLR:NM_001195799:exon3:c.G379C:p.D127H,LDLR:NM_000527:exon4:c.G502C:p.D168H,LDLR:NM_001195798:exon4:c.G502C:p.D168H	19p13.2	.	.	0.001	D	1.0	D	1.0	D	0.000	D	1	D	4.615	H	-5.09	D	-6.36	D	0.983	5.693	26.8	0.994	0.998	D	1.006	D	0.986	D	0.672	0	5.6	0.917	0.994	0.433	0.020	18.374	Deleterious
1748	19	11105425	C	A	Pathogenic/Likely pathogenic	LDLR	.	.	.	.	.	.	.	.	.	.	19	11105425	11105425	C	A	exonic	LDLR	.	stopgain	LDLR:NM_001195799:exon3:c.C396A:p.C132X,LDLR:NM_000527:exon4:c.C519A:p.C173X,LDLR:NM_001195798:exon4:c.C519A:p.C173X	19p13.2	.	.	.	.	.	.	.	.	0.000	D	1	A	.	.	.	.	.	.	.	5.694	26.8	0.981	0.864	D	.	.	.	.	0.672	0	-3.7	-0.379	-0.915	0.226	0.002	11.98	Deleterious (FATHMM)
1749	19	11105436	C	T	Pathogenic/Likely pathogenic, not provided	LDLR	.	.	.	.	.	.	.	.	.	.	19	11105436	11105436	C	T	exonic	LDLR	.	nonsynonymous SNV	LDLR:NM_001195799:exon3:c.C407T:p.S136L,LDLR:NM_000527:exon4:c.C530T:p.S177L,LDLR:NM_001195798:exon4:c.C530T:p.S177L	19p13.2	.	rs121908026	0.038	D	1.0	D	1.0	D	0.000	D	1	D	3.48	M	-4.55	D	-5.42	D	0.971	6.176	28.6	0.999	0.996	D	1.094	D	0.969	D	0.672	0	5.6	0.871	0.888	0.928	0.390	18.374	Deleterious
1750	19	11105457	G	A	Pathogenic/Likely pathogenic	LDLR	.	.	.	.	.	.	.	.	.	.	19	11105457	11105457	G	A	exonic	LDLR	.	nonsynonymous SNV	LDLR:NM_001195799:exon3:c.G428A:p.C143Y,LDLR:NM_000527:exon4:c.G551A:p.C184Y,LDLR:NM_001195798:exon4:c.G551A:p.C184Y	19p13.2	.	rs121908039	0.002	D	1.0	D	1.0	D	0.000	D	1	D	4.055	H	-8.0	D	-9.28	D	0.902	5.330	25.8	0.983	0.999	D	0.915	D	0.998	D	0.672	0	5.6	0.917	0.994	0.007	0.006	18.374	Deleterious
1751	19	11105470	C	G	Pathogenic/Likely pathogenic	LDLR	.	.	.	.	.	.	.	.	.	.	19	11105470	11105470	C	G	exonic	LDLR	.	stopgain	LDLR:NM_001195799:exon3:c.C441G:p.Y147X,LDLR:NM_000527:exon4:c.C564G:p.Y188X,LDLR:NM_001195798:exon4:c.C564G:p.Y188X	19p13.2	.	rs121908034	.	.	.	.	.	.	0.000	N	1	A	.	.	.	.	.	.	.	3.730	23.3	0.909	0.728	D	.	.	.	.	0.672	0	0.135	-0.006	-0.429	0.001	0.000	4.450	Deleterious (FATHMM)
1752	19	11105495	T	C	Pathogenic/Likely pathogenic, not provided	LDLR	.	.	.	.	.	.	.	.	.	.	19	11105495	11105495	T	C	exonic	LDLR	.	nonsynonymous SNV	LDLR:NM_001195799:exon3:c.T466C:p.C156R,LDLR:NM_000527:exon4:c.T589C:p.C197R,LDLR:NM_001195798:exon4:c.T589C:p.C197R	19p13.2	.	rs730882085	0.0	D	1.0	D	0.995	D	0.000	D	1	D	4.61	H	-6.07	D	-9.01	D	0.884	4.628	24.5	0.992	0.995	D	0.955	D	0.991	D	0.672	0	5.6	0.991	1.007	0.257	0.237	14.757	Deleterious
1753	19	11105496	G	A	Pathogenic/Likely pathogenic	LDLR	.	.	.	.	.	.	.	.	.	.	19	11105496	11105496	G	A	exonic	LDLR	.	nonsynonymous SNV	LDLR:NM_001195799:exon3:c.G467A:p.C156Y,LDLR:NM_000527:exon4:c.G590A:p.C197Y,LDLR:NM_001195798:exon4:c.G590A:p.C197Y	19p13.2	.	rs376459828	0.0	D	1.0	D	0.997	D	0.000	D	1	D	4.61	H	-6.07	D	-8.77	D	0.92	4.854	24.9	0.982	0.998	D	0.946	D	0.991	D	0.672	0	4.55	0.917	0.994	0.272	0.246	15.566	Deleterious
1754	19	11105567	G	T	Pathogenic/Likely pathogenic	LDLR	.	.	.	.	.	.	.	.	.	.	19	11105567	11105567	G	T	exonic	LDLR	.	nonsynonymous SNV	LDLR:NM_001195799:exon3:c.G538T:p.D180Y,LDLR:NM_000527:exon4:c.G661T:p.D221Y,LDLR:NM_001195798:exon4:c.G661T:p.D221Y	19p13.2	.	.	0.0	D	1.0	D	1.0	D	0.000	D	1	D	4.59	H	-5.36	D	-8.26	D	0.986	6.500	31	0.994	0.997	D	0.987	D	0.988	D	0.672	0	5.6	0.917	0.994	0.574	0.589	18.374	Deleterious
1755	19	11105568	A	G	Pathogenic/Likely pathogenic, not provided	LDLR	.	.	.	.	.	.	.	.	.	.	19	11105568	11105568	A	G	exonic	LDLR	.	nonsynonymous SNV	LDLR:NM_001195799:exon3:c.A539G:p.D180G,LDLR:NM_000527:exon4:c.A662G:p.D221G,LDLR:NM_001195798:exon4:c.A662G:p.D221G	19p13.2	7.7e-05	rs373822756	0.001	D	1.0	D	1.0	D	0.000	D	1	D	4.24	H	-5.26	D	-6.43	D	0.967	6.158	28.5	0.999	0.996	D	1.034	D	0.983	D	0.672	0	5.6	1.062	1.136	0.743	0.772	14.757	Deleterious
1756	19	11105570	T	C	Pathogenic/Likely pathogenic	LDLR	.	.	.	.	.	.	.	.	.	.	19	11105570	11105570	T	C	exonic	LDLR	.	nonsynonymous SNV	LDLR:NM_001195799:exon3:c.T541C:p.C181R,LDLR:NM_000527:exon4:c.T664C:p.C222R,LDLR:NM_001195798:exon4:c.T664C:p.C222R	19p13.2	.	rs577934998	0.0	D	1.0	D	1.0	D	0.000	D	1	D	4.69	H	-5.53	D	-11.02	D	0.999	5.654	26.7	0.997	0.995	D	0.920	D	0.998	D	0.672	0	5.6	0.991	1.007	0.921	0.937	14.757	Deleterious
1757	19	11105576	G	A	Pathogenic/Likely pathogenic	LDLR	.	.	.	.	.	.	.	.	.	.	19	11105576	11105576	G	A	exonic	LDLR	.	nonsynonymous SNV	LDLR:NM_001195799:exon3:c.G547A:p.D183N,LDLR:NM_000527:exon4:c.G670A:p.D224N,LDLR:NM_001195798:exon4:c.G670A:p.D224N	19p13.2	.	rs387906303	0.037	D	0.996	D	0.994	D	0.000	D	1	D	2.63	M	-4.36	D	-4.19	D	0.308	6.608	32	0.999	0.996	D	1.082	D	0.980	D	0.672	0	5.6	0.917	0.994	0.998	0.997	18.374	Deleterious
1758	19	11105587	C	G	Pathogenic/Likely pathogenic	LDLR	.	.	.	.	.	.	.	.	.	.	19	11105587	11105587	C	G	exonic	LDLR	.	nonsynonymous SNV	LDLR:NM_001195799:exon3:c.C558G:p.D186E,LDLR:NM_000527:exon4:c.C681G:p.D227E,LDLR:NM_001195798:exon4:c.C681G:p.D227E	19p13.2	.	rs121908028	0.001	D	1.0	D	1.0	D	0.000	D	1	D	3.98	H	-5.54	D	-3.68	D	0.927	5.135	25.4	0.995	0.833	D	1.075	D	0.978	D	0.672	0	-0.195	-0.514	-0.356	0.927	0.690	8.441	Deleterious
1759	19	11105588	G	T	Pathogenic/Likely pathogenic	LDLR	.	.	.	.	.	.	.	.	.	.	19	11105588	11105588	G	T	exonic	LDLR	.	stopgain	LDLR:NM_001195799:exon3:c.G559T:p.E187X,LDLR:NM_000527:exon4:c.G682T:p.E228X,LDLR:NM_001195798:exon4:c.G682T:p.E228X	19p13.2	.	rs121908029	.	.	.	.	.	.	0.000	D	1	A	.	.	.	.	.	.	.	13.480	42	0.997	0.997	D	.	.	.	.	0.672	0	5.6	0.917	0.994	0.929	0.685	18.374	Deleterious (FATHMM)
1760	19	11105588	G	A	Pathogenic/Likely pathogenic	LDLR	.	.	.	.	.	.	.	.	.	.	19	11105588	11105588	G	A	exonic	LDLR	.	nonsynonymous SNV	LDLR:NM_001195799:exon3:c.G559A:p.E187K,LDLR:NM_000527:exon4:c.G682A:p.E228K,LDLR:NM_001195798:exon4:c.G682A:p.E228K	19p13.2	.	rs121908029	0.001	D	1.0	D	0.999	D	0.000	D	1	D	4.3	H	-5.18	D	-3.67	D	0.976	7.073	33	0.999	0.996	D	1.030	D	0.984	D	0.672	0	5.6	0.917	0.994	0.929	0.685	18.374	Deleterious
1761	19	11105599	C	A	Pathogenic/Likely pathogenic	LDLR	.	.	.	.	.	.	.	.	.	.	19	11105599	11105599	C	A	exonic	LDLR	.	stopgain	LDLR:NM_001195799:exon3:c.C570A:p.C190X,LDLR:NM_000527:exon4:c.C693A:p.C231X,LDLR:NM_001195798:exon4:c.C693A:p.C231X	19p13.2	.	rs121908035	.	.	.	.	.	.	0.000	D	1	A	.	.	.	.	.	.	.	6.479	30	0.983	0.800	D	.	.	.	.	0.672	0	-2.43	-0.275	-0.867	0.753	0.001	10.618	Deleterious (FATHMM)
1762	19	11106588	G	A	Pathogenic/Likely pathogenic	LDLR	.	.	.	.	.	.	.	.	.	.	19	11106588	11106588	G	A	exonic	LDLR	.	nonsynonymous SNV	LDLR:NM_001195799:exon4:c.G595A:p.E199K,LDLR:NM_001195803:exon4:c.G337A:p.E113K,LDLR:NM_000527:exon5:c.G718A:p.E240K,LDLR:NM_001195798:exon5:c.G718A:p.E240K	19p13.2	.	rs768563000	0.085	T	0.975	D	0.922	D	0.000	D	1	D	2.295	M	-3.86	D	-2.32	N	0.911	6.566	31	0.999	0.994	D	0.989	D	0.902	D	0.672	0	4.05	0.917	0.937	0.989	0.943	13.764	Deleterious
1763	19	11107390	A	G	Pathogenic	LDLR	.	.	.	.	.	.	.	.	.	.	19	11107390	11107390	A	G	splicing	LDLR	NM_001195799:exon5:c.695-2A>G,NM_001195803:exon5:c.437-2A>G,NM_001195798:exon6:c.818-2A>G,NM_000527:exon6:c.818-2A>G,NM_001195800:exon4:c.314-2A>G	.	.	19p13.2	.	.	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	3.208	22.7	0.985	0.962	D	.	.	.	.	0.257	0	5.33	1.062	1.069	0.952	0.135	14.280	Deleterious (FATHMM)
1764	19	11107491	C	T	Pathogenic/Likely pathogenic	LDLR	.	.	.	.	.	.	.	.	.	.	19	11107491	11107491	C	T	exonic	LDLR	.	nonsynonymous SNV	LDLR:NM_001195800:exon4:c.C413T:p.S138L,LDLR:NM_001195799:exon5:c.C794T:p.S265L,LDLR:NM_001195803:exon5:c.C536T:p.S179L,LDLR:NM_000527:exon6:c.C917T:p.S306L,LDLR:NM_001195798:exon6:c.C917T:p.S306L	19p13.2	.	rs11547917	0.001	D	1.0	D	0.994	D	0.000	D	1	D	3.625	H	-4.55	D	-4.89	D	0.955	6.656	32	0.999	0.973	D	1.089	D	0.970	D	0.672	0	5.33	0.871	0.837	0.996	0.979	17.789	Deleterious
1765	19	11107513	C	A	Pathogenic	LDLR	.	.	.	.	.	.	.	.	.	.	19	11107513	11107513	C	A	exonic	LDLR	.	stopgain	LDLR:NM_001195800:exon4:c.C435A:p.C145X,LDLR:NM_001195799:exon5:c.C816A:p.C272X,LDLR:NM_001195803:exon5:c.C558A:p.C186X,LDLR:NM_000527:exon6:c.C939A:p.C313X,LDLR:NM_001195798:exon6:c.C939A:p.C313X	19p13.2	.	.	.	.	.	.	.	.	0.000	D	1	A	.	.	.	.	.	.	.	5.204	25.5	0.967	0.485	N	.	.	.	.	0.672	0	-4.35	-0.604	-1.708	0.807	0.440	13.551	Deleterious (DANN)
1766	19	11110697	G	A	Pathogenic/Likely pathogenic	LDLR	.	.	.	.	.	.	.	.	.	.	19	11110697	11110697	G	A	exonic	LDLR	.	nonsynonymous SNV	LDLR:NM_001195800:exon5:c.G482A:p.C161Y,LDLR:NM_001195799:exon6:c.G863A:p.C288Y,LDLR:NM_001195803:exon6:c.G605A:p.C202Y,LDLR:NM_000527:exon7:c.G986A:p.C329Y,LDLR:NM_001195798:exon7:c.G986A:p.C329Y	19p13.2	.	rs761954844	0.0	D	1.0	D	1.0	D	0.000	D	1	D	4.715	H	-5.57	D	-10.55	D	0.997	5.279	25.7	0.986	0.996	D	1.121	D	1.000	D	0.672	0	5.4	0.897	0.947	0.998	0.793	17.946	Deleterious
1767	19	11110744	C	T	Pathogenic	LDLR	.	.	.	.	.	.	.	.	.	.	19	11110744	11110744	C	T	exonic	LDLR	.	stopgain	LDLR:NM_001195800:exon5:c.C529T:p.Q177X,LDLR:NM_001195799:exon6:c.C910T:p.Q304X,LDLR:NM_001195803:exon6:c.C652T:p.Q218X,LDLR:NM_000527:exon7:c.C1033T:p.Q345X,LDLR:NM_001195798:exon7:c.C1033T:p.Q345X	19p13.2	.	.	.	.	.	.	.	.	0.305	N	1	A	.	.	.	.	.	.	.	10.574	36	0.997	0.779	D	.	.	.	.	0.672	0	5.4	0.853	0.847	0.427	0.251	12.982	Deleterious (FATHMM)
1768	19	11110759	C	T	Pathogenic	LDLR	.	.	.	.	.	.	.	.	.	.	19	11110759	11110759	C	T	exonic	LDLR	.	stopgain	LDLR:NM_001195800:exon5:c.C544T:p.R182X,LDLR:NM_001195799:exon6:c.C925T:p.R309X,LDLR:NM_001195803:exon6:c.C667T:p.R223X,LDLR:NM_000527:exon7:c.C1048T:p.R350X,LDLR:NM_001195798:exon7:c.C1048T:p.R350X	19p13.2	.	rs769737896	.	.	.	.	.	.	0.915	N	1	A	.	.	.	.	.	.	.	10.314	36	0.997	0.943	D	.	.	.	.	0.672	0	1.76	-0.074	0.847	0.052	0.220	6.744	Deleterious (FATHMM)
1769	19	11110772	G	A	Pathogenic	LDLR	.	.	.	.	.	.	.	.	.	.	19	11110772	11110772	G	A	splicing	LDLR	NM_001195799:exon6:c.937+1G>A,NM_001195803:exon6:c.679+1G>A,NM_001195798:exon7:c.1060+1G>A,NM_000527:exon7:c.1060+1G>A,NM_001195800:exon5:c.556+1G>A	.	.	19p13.2	.	.	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	5.373	25.9	0.995	0.998	D	.	.	.	.	0.257	0	5.19	0.897	0.947	0.615	0.770	17.488	Deleterious (FATHMM)
1770	19	11111629	C	A	Pathogenic/Likely pathogenic	LDLR	.	.	.	.	.	.	.	.	.	.	19	11111629	11111629	C	A	exonic	LDLR	.	stopgain	LDLR:NM_001195800:exon6:c.C672A:p.C224X,LDLR:NM_001195799:exon7:c.C1053A:p.C351X,LDLR:NM_001195803:exon7:c.C795A:p.C265X,LDLR:NM_000527:exon8:c.C1176A:p.C392X,LDLR:NM_001195798:exon8:c.C1176A:p.C392X	19p13.2	.	rs750649426	.	.	.	.	.	.	0.000	D	1	A	.	.	.	.	.	.	.	11.661	38	0.995	0.986	D	.	.	.	.	0.672	0	3.46	0.871	0.807	0.998	0.956	10.645	Deleterious (FATHMM)
1771	19	11113268	G	A	Pathogenic/Likely pathogenic	LDLR	.	.	.	.	.	.	.	.	.	.	19	11113268	11113268	G	A	intronic	LDLR	.	.	.	19p13.2	.	rs765696008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	probably Tolerated (Intron)
1772	19	11113292	C	G	Pathogenic/Likely pathogenic	LDLR	.	.	.	.	.	.	.	.	.	.	19	11113292	11113292	C	G	exonic	LDLR	.	nonsynonymous SNV	LDLR:NM_001195800:exon7:c.C697G:p.L233V,LDLR:NM_001195799:exon8:c.C1078G:p.L360V,LDLR:NM_001195803:exon8:c.C820G:p.L274V,LDLR:NM_000527:exon9:c.C1201G:p.L401V,LDLR:NM_001195798:exon9:c.C1201G:p.L401V	19p13.2	0.0002	rs146200173	0.01	D	0.921	P	0.869	P	0.000	D	1	D	2.105	M	-3.03	D	-2.93	D	0.867	4.893	24.9	0.995	0.995	D	0.858	D	0.835	D	0.672	0	4.87	0.871	0.847	0.606	0.210	16.792	Deleterious
1773	19	11113307	C	T	Pathogenic/Likely pathogenic	LDLR	.	.	.	.	.	.	.	.	.	.	19	11113307	11113307	C	T	exonic	LDLR	.	nonsynonymous SNV	LDLR:NM_001195800:exon7:c.C712T:p.R238W,LDLR:NM_001195799:exon8:c.C1093T:p.R365W,LDLR:NM_001195803:exon8:c.C835T:p.R279W,LDLR:NM_000527:exon9:c.C1216T:p.R406W,LDLR:NM_001195798:exon9:c.C1216T:p.R406W	19p13.2	.	rs121908043	0.0	D	1.0	D	1.0	D	0.000	D	1.000	D	3.25	M	-2.91	D	-7.32	D	0.897	6.748	32	0.999	0.972	D	1.029	D	0.897	D	0.672	0	4.87	0.871	0.847	0.997	0.180	16.792	Deleterious
1774	19	11113337	C	T	Pathogenic/Likely pathogenic, not provided	LDLR	.	.	.	.	.	.	.	.	.	.	19	11113337	11113337	C	T	exonic	LDLR	.	nonsynonymous SNV	LDLR:NM_001195800:exon7:c.C742T:p.R248W,LDLR:NM_001195799:exon8:c.C1123T:p.R375W,LDLR:NM_001195803:exon8:c.C865T:p.R289W,LDLR:NM_000527:exon9:c.C1246T:p.R416W,LDLR:NM_001195798:exon9:c.C1246T:p.R416W	19p13.2	.	rs570942190	0.002	D	1.0	D	0.993	D	0.000	D	1	D	2.365	M	-2.8	D	-6.64	D	0.924	6.122	28.3	0.999	0.942	D	0.801	D	0.828	D	0.672	0	3.82	0.871	-0.011	0.992	0.373	13.366	Deleterious
1775	19	11113376	G	A	Pathogenic/Likely pathogenic	LDLR	.	.	.	.	.	.	.	.	.	.	19	11113376	11113376	G	A	exonic	LDLR	.	nonsynonymous SNV	LDLR:NM_001195800:exon7:c.G781A:p.V261M,LDLR:NM_001195799:exon8:c.G1162A:p.V388M,LDLR:NM_001195803:exon8:c.G904A:p.V302M,LDLR:NM_000527:exon9:c.G1285A:p.V429M,LDLR:NM_001195798:exon9:c.G1285A:p.V429M	19p13.2	.	rs28942078	0.021	D	1.0	D	0.976	D	0.000	D	1	D	2.88	M	-2.97	D	-2.18	N	0.817	6.453	29.9	0.999	0.965	D	0.962	D	0.881	D	0.672	0	4.87	0.917	0.944	0.950	0.907	16.792	Deleterious
1776	19	11113382	G	A	Pathogenic/Likely pathogenic	LDLR	.	.	.	.	.	.	.	.	.	.	19	11113382	11113382	G	A	exonic	LDLR	.	nonsynonymous SNV	LDLR:NM_001195800:exon7:c.G787A:p.A263T,LDLR:NM_001195799:exon8:c.G1168A:p.A390T,LDLR:NM_001195803:exon8:c.G910A:p.A304T,LDLR:NM_000527:exon9:c.G1291A:p.A431T,LDLR:NM_001195798:exon9:c.G1291A:p.A431T	19p13.2	.	rs28942079	0.001	D	0.998	D	0.936	D	0.000	D	1	D	2.63	M	-2.92	D	-3.78	D	0.889	7.150	34	0.999	0.989	D	0.948	D	0.868	D	0.672	0	4.87	0.917	0.944	0.911	0.903	16.792	Deleterious
1777	19	11113413	T	C	Pathogenic/Likely pathogenic	LDLR	.	.	.	.	.	.	.	.	.	.	19	11113413	11113413	T	C	exonic	LDLR	.	nonsynonymous SNV	LDLR:NM_001195800:exon7:c.T818C:p.I273T,LDLR:NM_001195799:exon8:c.T1199C:p.I400T,LDLR:NM_001195803:exon8:c.T941C:p.I314T,LDLR:NM_000527:exon9:c.T1322C:p.I441T,LDLR:NM_001195798:exon9:c.T1322C:p.I441T	19p13.2	.	.	0.001	D	0.961	D	0.94	D	0.027	N	1	D	3.745	H	-4.28	D	-4.13	D	0.919	5.672	26.7	0.998	0.987	D	1.097	D	0.960	D	0.672	0	4.87	0.991	0.956	0.993	0.995	13.464	Deleterious
1778	19	11113451	T	A	Pathogenic/Likely pathogenic	LDLR	.	.	.	.	.	.	.	.	.	.	19	11113451	11113451	T	A	splicing	LDLR	NM_001195799:exon8:c.1235+2T>A,NM_001195803:exon8:c.977+2T>A,NM_001195798:exon9:c.1358+2T>A,NM_000527:exon9:c.1358+2T>A,NM_001195800:exon7:c.854+2T>A	.	.	19p13.2	.	rs193922567	.	.	.	.	.	.	.	.	1	A	.	.	.	.	.	.	.	4.535	24.3	0.993	0.995	D	.	.	.	.	0.070	0	4.87	0.991	0.956	0.983	0.976	13.464	Deleterious (FATHMM)
1779	19	11113534	G	A	Pathogenic/Likely pathogenic	LDLR|MIR6886	.	.	.	.	.	.	.	.	.	.	19	11113534	11113534	G	A	ncRNA_exonic;splicing	MIR6886;LDLR	NM_001195799:exon9:c.1236-1G>A,NM_001195803:exon9:c.978-1G>A,NM_001195798:exon10:c.1359-1G>A,NM_000527:exon10:c.1359-1G>A,NM_001195800:exon8:c.855-1G>A	.	.	19p13.2	7.7e-05	rs139617694	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	4.044	23.7	0.994	0.993	D	.	.	.	.	0.257	0	4.55	0.917	0.944	0.054	0.424	16.108	Deleterious (FATHMM)
1780	19	11113590	G	T	Pathogenic/Likely pathogenic, not provided	LDLR	.	.	.	.	.	.	.	.	.	.	19	11113590	11113590	G	T	exonic	LDLR	.	nonsynonymous SNV	LDLR:NM_001195800:exon8:c.G910T:p.D304Y,LDLR:NM_001195799:exon9:c.G1291T:p.D431Y,LDLR:NM_001195803:exon9:c.G1033T:p.D345Y,LDLR:NM_000527:exon10:c.G1414T:p.D472Y,LDLR:NM_001195798:exon10:c.G1414T:p.D472Y	19p13.2	.	rs730882102	0.048	D	0.971	D	0.96	D	0.069	N	1	N	3.11	M	-4.3	D	-4.01	D	0.878	4.327	24.0	0.989	0.839	D	0.669	D	0.937	D	0.672	0	2.55	0.917	0.944	0.305	0.461	6.033	Deleterious
1781	19	11113643	C	G	Pathogenic/Likely pathogenic	LDLR	.	.	.	.	.	.	.	.	.	.	19	11113643	11113643	C	G	exonic	LDLR	.	stopgain	LDLR:NM_001195800:exon8:c.C963G:p.Y321X,LDLR:NM_001195799:exon9:c.C1344G:p.Y448X,LDLR:NM_001195803:exon9:c.C1086G:p.Y362X,LDLR:NM_000527:exon10:c.C1467G:p.Y489X,LDLR:NM_001195798:exon10:c.C1467G:p.Y489X	19p13.2	7.7e-05	rs370777955	.	.	.	.	.	.	0.000	D	1	A	.	.	.	.	.	.	.	12.289	39	0.997	0.984	D	.	.	.	.	0.672	0	4.72	0.871	0.844	0.998	0.992	10.188	Deleterious (FATHMM)
1782	19	11113644	T	C	Pathogenic/Likely pathogenic	LDLR	.	.	.	.	.	.	.	.	.	.	19	11113644	11113644	T	C	exonic	LDLR	.	nonsynonymous SNV	LDLR:NM_001195800:exon8:c.T964C:p.W322R,LDLR:NM_001195799:exon9:c.T1345C:p.W449R,LDLR:NM_001195803:exon9:c.T1087C:p.W363R,LDLR:NM_000527:exon10:c.T1468C:p.W490R,LDLR:NM_001195798:exon10:c.T1468C:p.W490R	19p13.2	.	rs730880130	0.0	D	1.0	D	1.0	D	0.000	D	1	D	4.155	H	-6.75	D	-13.25	D	0.993	6.078	28.1	0.996	0.990	D	0.938	D	0.994	D	0.672	0	4.72	0.991	0.956	0.998	0.989	13.182	Deleterious
1783	19	11113743	G	A	Pathogenic/Likely pathogenic, not provided	LDLR	.	.	.	.	.	.	.	.	.	.	19	11113743	11113743	G	A	exonic	LDLR	.	nonsynonymous SNV	LDLR:NM_001195800:exon8:c.G1063A:p.V355M,LDLR:NM_001195799:exon9:c.G1444A:p.V482M,LDLR:NM_001195803:exon9:c.G1186A:p.V396M,LDLR:NM_000527:exon10:c.G1567A:p.V523M,LDLR:NM_001195798:exon10:c.G1567A:p.V523M	19p13.2	.	rs28942080	0.002	D	0.999	D	0.986	D	0.000	D	1.000	D	3.605	H	-4.12	D	-1.83	N	0.865	6.462	29.9	0.999	0.990	D	1.105	D	0.954	D	0.672	0	4.72	0.917	0.944	0.961	0.148	16.450	Deleterious
1784	19	11113764	T	A	Pathogenic/Likely pathogenic	LDLR	.	.	.	.	.	.	.	.	.	.	19	11113764	11113764	T	A	splicing	LDLR	NM_001195799:exon9:c.1463+2T>A,NM_001195803:exon9:c.1205+2T>A,NM_001195798:exon10:c.1586+2T>A,NM_000527:exon10:c.1586+2T>A,NM_001195800:exon8:c.1082+2T>A	.	.	19p13.2	.	.	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	3.915	23.5	0.988	0.990	D	.	.	.	.	0.161	0	4.72	0.991	0.956	0.663	0.141	13.182	Deleterious (FATHMM)
1785	19	11116106	G	A	Pathogenic	LDLR	.	.	.	.	.	.	.	.	.	.	19	11116106	11116106	G	A	exonic	LDLR	.	stopgain	LDLR:NM_001195800:exon9:c.G1095A:p.W365X,LDLR:NM_001195799:exon10:c.G1476A:p.W492X,LDLR:NM_001195803:exon10:c.G1218A:p.W406X,LDLR:NM_000527:exon11:c.G1599A:p.W533X,LDLR:NM_001195798:exon11:c.G1599A:p.W533X	19p13.2	.	.	.	.	.	.	.	.	0.000	D	1	A	.	.	.	.	.	.	.	14.332	45	0.998	0.989	D	.	.	.	.	0.672	0	5.93	0.917	1.035	0.999	0.990	19.110	Deleterious (FATHMM)
1786	19	11116125	G	A	Pathogenic/Likely pathogenic	LDLR	.	.	.	.	.	.	.	.	.	.	19	11116125	11116125	G	A	exonic	LDLR	.	nonsynonymous SNV	LDLR:NM_001195800:exon9:c.G1114A:p.A372T,LDLR:NM_001195799:exon10:c.G1495A:p.A499T,LDLR:NM_001195803:exon10:c.G1237A:p.A413T,LDLR:NM_000527:exon11:c.G1618A:p.A540T,LDLR:NM_001195798:exon11:c.G1618A:p.A540T	19p13.2	.	rs769370816	0.006	D	1.0	D	1.0	D	0.000	D	1	D	3.31	M	-4.55	D	-3.75	D	0.913	5.566	26.4	0.997	0.981	D	1.094	D	0.965	D	0.672	0	4.88	0.917	1.035	0.988	0.795	16.037	Deleterious
1787	19	11116153	G	A	Pathogenic/Likely pathogenic, not provided	LDLR	.	.	.	.	.	.	.	.	.	.	19	11116153	11116153	G	A	exonic	LDLR	.	nonsynonymous SNV	LDLR:NM_001195800:exon9:c.G1142A:p.G381D,LDLR:NM_001195799:exon10:c.G1523A:p.G508D,LDLR:NM_001195803:exon10:c.G1265A:p.G422D,LDLR:NM_000527:exon11:c.G1646A:p.G549D,LDLR:NM_001195798:exon11:c.G1646A:p.G549D	19p13.2	.	rs28941776	0.0	D	0.998	D	0.999	D	0.000	U	1	D	4.085	H	-5.52	D	-6.6	D	0.903	4.738	24.7	0.997	0.985	D	1.025	D	0.984	D	0.672	0	4.76	0.917	1.035	0.924	0.175	13.854	Deleterious
1788	19	11116193	G	A	Pathogenic/Likely pathogenic	LDLR	.	.	.	.	.	.	.	.	.	.	19	11116193	11116193	G	A	exonic	LDLR	.	stopgain	LDLR:NM_001195800:exon9:c.G1182A:p.W394X,LDLR:NM_001195799:exon10:c.G1563A:p.W521X,LDLR:NM_001195803:exon10:c.G1305A:p.W435X,LDLR:NM_000527:exon11:c.G1686A:p.W562X,LDLR:NM_001195798:exon11:c.G1686A:p.W562X	19p13.2	.	.	.	.	.	.	.	.	0.000	U	1	A	.	.	.	.	.	.	.	13.692	43	0.993	0.989	D	.	.	.	.	0.672	0	5.79	0.917	1.035	0.959	0.998	18.797	Deleterious (FATHMM)
1789	19	11116857	A	T	Pathogenic	LDLR	.	.	.	.	.	.	.	.	.	.	19	11116857	11116857	A	T	splicing	LDLR	NM_001195799:exon11:c.1583-2A>T,NM_001195803:exon11:c.1325-2A>T,NM_001195798:exon12:c.1706-2A>T,NM_000527:exon12:c.1706-2A>T,NM_001195800:exon10:c.1202-2A>T	.	.	19p13.2	.	.	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	3.450	23.0	0.987	0.996	D	.	.	.	.	0.257	0	5.61	1.062	1.066	0.499	0.095	13.773	Deleterious (FATHMM)
1790	19	11116873	C	T	Pathogenic/Likely pathogenic, not provided	LDLR	.	.	.	.	.	.	.	.	.	.	19	11116873	11116873	C	T	exonic	LDLR	.	nonsynonymous SNV	LDLR:NM_001195800:exon10:c.C1216T:p.R406C,LDLR:NM_001195799:exon11:c.C1597T:p.R533C,LDLR:NM_001195803:exon11:c.C1339T:p.R447C,LDLR:NM_000527:exon12:c.C1720T:p.R574C,LDLR:NM_001195798:exon12:c.C1720T:p.R574C	19p13.2	.	rs185098634	0.0	D	1.0	D	0.998	D	0.000	D	1	D	3.685	H	-4.16	D	-7.53	D	0.97	7.369	34	0.999	0.993	D	1.099	D	0.959	D	0.672	0	5.48	0.871	0.836	0.925	0.842	18.139	Deleterious
1791	19	11116884	G	T	Pathogenic/Likely pathogenic	LDLR	.	.	.	.	.	.	.	.	.	.	19	11116884	11116884	G	T	exonic	LDLR	.	nonsynonymous SNV	LDLR:NM_001195800:exon10:c.G1227T:p.W409C,LDLR:NM_001195799:exon11:c.G1608T:p.W536C,LDLR:NM_001195803:exon11:c.G1350T:p.W450C,LDLR:NM_000527:exon12:c.G1731T:p.W577C,LDLR:NM_001195798:exon12:c.G1731T:p.W577C	19p13.2	.	.	0.0	D	1.0	D	1.0	D	0.001	D	1	D	3.865	H	-6.75	D	-12.41	D	0.982	5.887	27.4	0.992	0.991	D	0.942	D	0.994	D	0.672	0	5.48	0.917	0.935	1.000	0.976	18.139	Deleterious
1792	19	11116898	T	C	Pathogenic/Likely pathogenic	LDLR	.	.	.	.	.	.	.	.	.	.	19	11116898	11116898	T	C	exonic	LDLR	.	nonsynonymous SNV	LDLR:NM_001195800:exon10:c.T1241C:p.L414P,LDLR:NM_001195799:exon11:c.T1622C:p.L541P,LDLR:NM_001195803:exon11:c.T1364C:p.L455P,LDLR:NM_000527:exon12:c.T1745C:p.L582P,LDLR:NM_001195798:exon12:c.T1745C:p.L582P	19p13.2	.	.	0.002	D	1.0	D	0.997	D	0.000	D	1	D	3.57	H	-4.05	D	-6.62	D	0.966	4.946	25.0	0.999	0.974	D	1.089	D	0.948	D	0.672	0	5.48	0.991	0.946	0.996	0.892	10.338	Deleterious
1793	19	11116900	C	T	Pathogenic/Likely pathogenic	LDLR	.	.	.	.	.	.	.	.	.	.	19	11116900	11116900	C	T	exonic	LDLR	.	nonsynonymous SNV	LDLR:NM_001195800:exon10:c.C1243T:p.H415Y,LDLR:NM_001195799:exon11:c.C1624T:p.H542Y,LDLR:NM_001195803:exon11:c.C1366T:p.H456Y,LDLR:NM_000527:exon12:c.C1747T:p.H583Y,LDLR:NM_001195798:exon12:c.C1747T:p.H583Y	19p13.2	.	rs730882109	0.009	D	1.0	D	1.0	D	0.000	D	1	D	2.505	M	-2.85	D	-5.84	D	0.963	5.280	25.7	0.997	0.985	D	0.887	D	0.855	D	0.672	0	5.48	0.871	0.836	0.997	0.905	18.139	Deleterious
1794	19	11116928	G	A	Pathogenic/Likely pathogenic, not provided	LDLR	.	.	.	.	.	.	.	.	.	.	19	11116928	11116928	G	A	exonic	LDLR	.	nonsynonymous SNV	LDLR:NM_001195800:exon10:c.G1271A:p.G424E,LDLR:NM_001195799:exon11:c.G1652A:p.G551E,LDLR:NM_001195803:exon11:c.G1394A:p.G465E,LDLR:NM_000527:exon12:c.G1775A:p.G592E,LDLR:NM_001195798:exon12:c.G1775A:p.G592E	19p13.2	0.0002	rs137929307	0.001	D	0.988	D	0.965	D	0.000	D	1	D	3.415	M	-5.59	D	-7.45	D	0.983	5.057	25.2	0.991	0.990	D	1.045	D	0.984	D	0.672	0	5.48	0.917	0.931	0.817	0.136	18.139	Deleterious
1795	19	11116937	G	A	Pathogenic/Likely pathogenic, not provided	LDLR	.	.	.	.	.	.	.	.	.	.	19	11116937	11116937	G	A	exonic	LDLR	.	nonsynonymous SNV	LDLR:NM_001195800:exon10:c.G1280A:p.R427Q,LDLR:NM_001195799:exon11:c.G1661A:p.R554Q,LDLR:NM_001195803:exon11:c.G1403A:p.R468Q,LDLR:NM_000527:exon12:c.G1784A:p.R595Q,LDLR:NM_001195798:exon12:c.G1784A:p.R595Q	19p13.2	.	rs201102492	0.001	D	1.0	D	0.996	D	0.000	D	1	D	3.335	M	-4.37	D	-3.89	D	0.961	6.775	32	0.999	0.990	D	1.101	D	0.961	D	0.672	0	5.48	0.917	0.931	0.342	0.643	18.139	Deleterious
1796	19	11120091	G	A	Pathogenic/Likely pathogenic	LDLR	.	.	.	.	.	.	.	.	.	.	19	11120091	11120091	G	A	splicing	LDLR	NM_001195799:exon12:c.1723-1G>A,NM_001195803:exon12:c.1465-1G>A,NM_001195798:exon13:c.1846-1G>A,NM_000527:exon13:c.1846-1G>A,NM_001195800:exon11:c.1342-1G>A	.	.	19p13.2	.	.	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	5.120	25.4	0.995	0.994	D	.	.	.	.	0.257	0	5.37	0.917	1.032	0.874	0.864	17.942	Deleterious (FATHMM)
1797	19	11120143	C	T	Pathogenic/Likely pathogenic	LDLR	.	.	.	.	.	.	.	.	.	.	19	11120143	11120143	C	T	exonic	LDLR	.	nonsynonymous SNV	LDLR:NM_001195800:exon11:c.C1393T:p.R465C,LDLR:NM_001195799:exon12:c.C1774T:p.R592C,LDLR:NM_001195803:exon12:c.C1516T:p.R506C,LDLR:NM_000527:exon13:c.C1897T:p.R633C,LDLR:NM_001195798:exon13:c.C1897T:p.R633C	19p13.2	.	rs746118995	0.0	D	0.996	D	0.928	D	0.006	N	1	D	2.9	M	-3.96	D	-6.65	D	0.962	6.877	33	0.999	0.969	D	1.057	D	0.932	D	0.672	0	5.37	0.871	0.925	0.995	0.979	12.976	Deleterious
1798	19	11120144	G	A	Pathogenic/Likely pathogenic	LDLR	.	.	.	.	.	.	.	.	.	.	19	11120144	11120144	G	A	exonic	LDLR	.	nonsynonymous SNV	LDLR:NM_001195800:exon11:c.G1394A:p.R465H,LDLR:NM_001195799:exon12:c.G1775A:p.R592H,LDLR:NM_001195803:exon12:c.G1517A:p.R506H,LDLR:NM_000527:exon13:c.G1898A:p.R633H,LDLR:NM_001195798:exon13:c.G1898A:p.R633H	19p13.2	.	rs754536745	0.001	D	1.0	D	0.995	D	0.006	N	1.000	D	2.9	M	-3.95	D	-4.0	D	0.923	5.914	27.5	0.999	0.986	D	1.069	D	0.936	D	0.672	0	4.33	0.917	1.036	0.995	0.980	13.01	Deleterious
1799	19	11120382	G	A	Pathogenic/Likely pathogenic	LDLR	.	.	.	.	.	.	.	.	.	.	19	11120382	11120382	G	A	exonic	LDLR	.	nonsynonymous SNV	LDLR:NM_001195800:exon12:c.G1496A:p.C499Y,LDLR:NM_001195799:exon13:c.G1877A:p.C626Y,LDLR:NM_000527:exon14:c.G2000A:p.C667Y,LDLR:NM_001195798:exon14:c.G2000A:p.C667Y	19p13.2	.	rs28942083	0.0	D	1.0	D	1.0	D	0.000	D	1	D	4.33	H	-5.56	D	-10.33	D	0.99	6.427	29.7	0.998	0.997	D	0.982	D	0.989	D	0.672	0	5.45	0.917	1.048	0.988	0.993	18.056	Deleterious
1800	19	11120411	T	C	Pathogenic/Likely pathogenic	LDLR	.	.	.	.	.	.	.	.	.	.	19	11120411	11120411	T	C	exonic	LDLR	.	nonsynonymous SNV	LDLR:NM_001195800:exon12:c.T1525C:p.C509R,LDLR:NM_001195799:exon13:c.T1906C:p.C636R,LDLR:NM_000527:exon14:c.T2029C:p.C677R,LDLR:NM_001195798:exon14:c.T2029C:p.C677R	19p13.2	.	rs775092314	0.0	D	1.0	D	1.0	D	0.000	D	1	D	4.535	H	-6.92	D	-11.27	D	0.993	5.108	25.3	0.991	0.994	D	0.901	D	0.996	D	0.672	0	5.3	0.991	1.061	0.980	0.867	14.235	Deleterious
1801	19	11120425	C	A	Pathogenic/Likely pathogenic	LDLR	.	.	.	.	.	.	.	.	.	.	19	11120425	11120425	C	A	exonic	LDLR	.	stopgain	LDLR:NM_001195800:exon12:c.C1539A:p.C513X,LDLR:NM_001195799:exon13:c.C1920A:p.C640X,LDLR:NM_000527:exon14:c.C2043A:p.C681X,LDLR:NM_001195798:exon14:c.C2043A:p.C681X	19p13.2	.	rs121908031	.	.	.	.	.	.	0.000	D	1	A	.	.	.	.	.	.	.	7.582	34	0.977	0.913	D	.	.	.	.	0.672	0	-4.88	-0.032	-0.756	0.945	0.374	18.023	Deleterious (FATHMM)
1802	19	11120435	C	T	Pathogenic/Likely pathogenic	LDLR	.	.	.	.	.	.	.	.	.	.	19	11120435	11120435	C	T	exonic	LDLR	.	nonsynonymous SNV	LDLR:NM_001195800:exon12:c.C1549T:p.P517S,LDLR:NM_001195799:exon13:c.C1930T:p.P644S,LDLR:NM_000527:exon14:c.C2053T:p.P685S,LDLR:NM_001195798:exon14:c.C2053T:p.P685S	19p13.2	.	rs2569548	0.004	D	1.0	D	0.997	D	0.000	D	1	D	2.485	M	-4.3	D	-7.5	D	0.898	5.801	27.1	0.999	0.994	D	1.095	D	0.947	D	0.672	0	5.3	0.871	0.935	0.892	0.044	17.733	Deleterious
1803	19	11120436	C	T	Pathogenic/Likely pathogenic, not provided	LDLR	.	.	.	.	.	.	.	.	.	.	19	11120436	11120436	C	T	exonic	LDLR	.	nonsynonymous SNV	LDLR:NM_001195800:exon12:c.C1550T:p.P517L,LDLR:NM_001195799:exon13:c.C1931T:p.P644L,LDLR:NM_000527:exon14:c.C2054T:p.P685L,LDLR:NM_001195798:exon14:c.C2054T:p.P685L	19p13.2	0.0002	rs28942084	0.0	D	1.0	D	0.999	D	0.000	D	1	D	3.27	M	-4.35	D	-9.38	D	0.937	6.568	31	0.999	0.994	D	1.102	D	0.960	D	0.672	0	5.3	0.871	0.935	0.886	0.041	17.733	Deleterious
1804	19	11120438	C	T	Pathogenic	LDLR	.	.	.	.	.	.	.	.	.	.	19	11120438	11120438	C	T	exonic	LDLR	.	stopgain	LDLR:NM_001195800:exon12:c.C1552T:p.Q518X,LDLR:NM_001195799:exon13:c.C1933T:p.Q645X,LDLR:NM_000527:exon14:c.C2056T:p.Q686X,LDLR:NM_001195798:exon14:c.C2056T:p.Q686X	19p13.2	.	.	.	.	.	.	.	.	0.006	N	1	A	.	.	.	.	.	.	.	10.988	37	0.993	0.990	D	.	.	.	.	0.672	0	4.27	0.871	0.935	0.908	0.059	12.836	Deleterious (FATHMM)
1805	19	11120475	G	T	Pathogenic/Likely pathogenic	LDLR	.	.	.	.	.	.	.	.	.	.	19	11120475	11120475	G	T	exonic	LDLR	.	nonsynonymous SNV	LDLR:NM_001195800:exon12:c.G1589T:p.C530F,LDLR:NM_001195799:exon13:c.G1970T:p.C657F,LDLR:NM_000527:exon14:c.G2093T:p.C698F,LDLR:NM_001195798:exon14:c.G2093T:p.C698F	19p13.2	.	.	0.001	D	1.0	D	0.989	D	0.000	D	1	D	4.51	H	-10.09	D	-9.86	D	0.987	5.731	26.9	0.993	0.996	D	1.095	D	1.000	D	0.672	0	5.3	0.917	1.048	0.996	0.720	17.733	Deleterious
1806	19	11120522	G	T	Pathogenic/Likely pathogenic	LDLR	.	.	.	.	.	.	.	.	.	.	19	11120522	11120522	G	T	exonic	LDLR	.	stopgain	LDLR:NM_001195800:exon12:c.G1636T:p.E546X,LDLR:NM_001195799:exon13:c.G2017T:p.E673X,LDLR:NM_000527:exon14:c.G2140T:p.E714X,LDLR:NM_001195798:exon14:c.G2140T:p.E714X	19p13.2	.	.	.	.	.	.	.	.	0.693	U	1	A	.	.	.	.	.	.	.	13.754	43	0.997	0.995	D	.	.	.	.	0.672	0	5.17	0.917	1.048	0.464	0.975	17.433	Deleterious (FATHMM)
1807	19	11120523	G	A	Pathogenic/Likely pathogenic	LDLR	.	.	.	.	.	.	.	.	.	.	19	11120523	11120523	G	A	splicing	LDLR	NM_001195799:exon13:c.2017+1G>A,NM_001195798:exon14:c.2140+1G>A,NM_000527:exon14:c.2140+1G>A,NM_001195800:exon12:c.1636+1G>A	.	.	19p13.2	7.7e-05	rs145787161	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	5.232	25.6	0.995	0.996	D	.	.	.	.	0.284	0	5.17	0.917	1.048	0.442	0.949	17.433	Deleterious (FATHMM)
1808	19	11123248	C	T	Pathogenic/Likely pathogenic	LDLR	.	.	.	.	.	.	.	.	.	.	19	11123248	11123248	C	T	exonic	LDLR	.	stopgain	LDLR:NM_001195800:exon13:c.C1711T:p.Q571X,LDLR:NM_001195803:exon13:c.C1681T:p.Q561X,LDLR:NM_001195799:exon14:c.C2092T:p.Q698X,LDLR:NM_000527:exon15:c.C2215T:p.Q739X,LDLR:NM_001195798:exon15:c.C2215T:p.Q739X	19p13.2	.	.	.	.	.	.	.	.	0.003	U	1	A	.	.	.	.	.	.	.	8.245	35	0.923	0.088	N	.	.	.	.	0.672	0	0.372	0.598	-0.648	0.006	0.001	4.825
1809	19	11129671	G	A	Pathogenic	LDLR	.	.	.	.	.	.	.	.	.	.	19	11129671	11129671	G	A	splicing	LDLR	NM_001195799:exon16:c.2424+1G>A,NM_001195803:exon15:c.2013+1G>A,NM_001195798:exon17:c.2547+1G>A,NM_000527:exon17:c.2547+1G>A,NM_001195800:exon15:c.2043+1G>A	.	.	19p13.2	.	.	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	4.946	25.0	0.995	0.989	D	.	.	.	.	0.257	0	4.82	0.917	0.911	0.979	0.970	17.023	Deleterious (FATHMM)
1810	19	12657482	C	A	Pathogenic/Likely pathogenic	MAN2B1	.	.	.	.	.	.	.	.	.	.	19	12657482	12657482	C	A	exonic	MAN2B1	.	synonymous SNV	MAN2B1:NM_000528:exon11:c.C1383T:p.Y461Y,MAN2B1:NM_001173498:exon11:c.C1380T:p.Y460Y	19p13.13	.	rs775200333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
1811	19	12891965	C	T	Pathogenic/Likely pathogenic	GCDH	.	.	.	.	.	.	.	.	.	.	19	12891965	12891965	C	T	exonic	GCDH	.	nonsynonymous SNV	GCDH:NM_000159:exon4:c.C262T:p.R88C,GCDH:NM_013976:exon4:c.C262T:p.R88C	19p13.13	0.0002	rs142967670	0.0	D	1.0	D	0.998	D	0.000	D	1	D	4.505	H	-5.34	D	-7.19	D	0.944	7.973	35	0.999	0.842	D	0.927	D	0.994	D	0.767	0	5.31	0.871	0.932	0.995	0.997	16.461	Deleterious
1812	19	12893564	C	T	Pathogenic/Likely pathogenic	GCDH	.	.	.	.	.	.	.	.	.	.	19	12893564	12893564	C	T	exonic	GCDH	.	nonsynonymous SNV	GCDH:NM_000159:exon6:c.C416T:p.S139L,GCDH:NM_013976:exon6:c.C416T:p.S139L	19p13.13	7.7e-05	rs139851890	0.0	D	1.0	D	1.0	D	0.000	D	1	D	2.585	M	-6.3	D	-5.64	D	0.972	7.573	34	0.999	0.980	D	1.036	D	0.985	D	0.732	0	5.19	0.871	0.848	0.936	0.634	16.567	Deleterious
1813	19	12893630	G	A	Pathogenic/Likely pathogenic	GCDH	.	.	.	.	.	.	.	.	.	.	19	12893630	12893630	G	A	exonic	GCDH	.	nonsynonymous SNV	GCDH:NM_000159:exon6:c.G482A:p.R161Q,GCDH:NM_013976:exon6:c.G482A:p.R161Q	19p13.13	.	rs777201305	0.05	D	0.865	P	0.406	B	0.002	N	0.883	N	2.295	M	-6.55	D	-2.12	N	0.673	4.742	24.7	0.999	0.709	D	1.043	D	0.963	D	0.707	0	2.04	-0.011	0.064	0.989	0.984	7.729	Deleterious
1814	19	12896249	G	C	Pathogenic/Likely pathogenic	GCDH	.	.	.	.	.	.	.	.	.	.	19	12896249	12896249	G	C	exonic	GCDH	.	nonsynonymous SNV	GCDH:NM_000159:exon8:c.G680C:p.R227P,GCDH:NM_013976:exon8:c.G680C:p.R227P	19p13.13	0.0002	rs121434373	0.008	D	0.361	B	0.116	B	0.015	N	0.999	A	3.485	M	-4.23	D	-3.38	D	0.813	3.462	23.0	0.982	0.871	D	0.644	D	0.863	D	0.707	0	0.235	-0.045	0.953	0.970	1.000	1.044	Deleterious
1815	19	12897818	G	A	Pathogenic	GCDH	.	.	.	.	.	.	.	.	.	.	19	12897818	12897818	G	A	exonic	GCDH	.	nonsynonymous SNV	GCDH:NM_000159:exon11:c.G1198A:p.V400M,GCDH:NM_013976:exon11:c.G1198A:p.V400M	19p13.13	.	rs121434372	0.0	D	1.0	D	0.995	D	0.000	D	1.000	A	3.325	M	-4.1	D	-2.46	N	0.879	5.397	26.0	0.999	0.928	D	1.135	D	0.943	D	0.707	0	5.75	0.917	1.048	1.000	0.996	10.81	Deleterious
1816	19	12897824	C	T	Pathogenic	GCDH	.	.	.	.	.	.	.	.	.	.	19	12897824	12897824	C	T	exonic	GCDH	.	nonsynonymous SNV	GCDH:NM_000159:exon11:c.C1204T:p.R402W,GCDH:NM_013976:exon11:c.C1204T:p.R402W	19p13.13	0.0005	rs121434369	0.0	D	1.0	D	1.0	D	0.000	D	1	A	4.845	H	-4.37	D	-7.52	D	0.981	8.370	35	0.999	0.960	D	1.055	D	0.973	D	0.707	0	5.45	0.871	0.935	1.000	0.998	12.134	Deleterious
1817	19	12899486	C	T	Pathogenic	GCDH|SYCE2	.	.	.	.	.	.	.	.	.	.	19	12899486	12899486	C	T	exonic	GCDH	.	nonsynonymous SNV	GCDH:NM_000159:exon12:c.C1262T:p.A421V	19p13.13	.	rs121434367	0.0	D	1.0	D	0.983	D	0.000	D	1	A	3.42	M	-3.9	D	-3.7	D	0.986	7.665	35	0.999	0.995	D	1.087	D	0.943	D	0.732	0	5.45	0.871	0.848	0.996	0.995	17.150	Deleterious
1818	19	13025513	G	T	Pathogenic/Likely pathogenic	NFIX	.	.	.	.	.	.	.	.	.	.	19	13025513	13025513	G	T	exonic	NFIX	.	stopgain	NFIX:NM_001271043:exon2:c.G544T:p.E182X,NFIX:NM_001271044:exon2:c.G496T:p.E166X,NFIX:NM_002501:exon2:c.G520T:p.E174X	19p13.13	.	rs786205515	.	.	.	.	.	.	0.000	D	1	A	.	.	.	.	.	.	.	12.147	38	0.997	0.990	D	.	.	.	.	0.660	0	5.38	0.917	1.045	1.000	1.000	17.904	Deleterious (FATHMM)
1819	19	13913639	G	T	Pathogenic	CC2D1A	.	.	.	.	.	.	.	.	.	.	19	13913639	13913639	G	T	splicing	CC2D1A	NM_017721:exon6:c.748+1G>T	.	.	19p13.12	.	.	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	4.105	23.7	0.992	0.909	D	.	.	.	.	0.116	0	3.44	0.917	0.970	0.596	0.946	9.866	Deleterious (FATHMM)
1820	19	17837148	C	T	Pathogenic/Likely pathogenic	JAK3	.	.	.	.	.	.	.	.	.	.	19	17837148	17837148	C	T	exonic	JAK3	.	synonymous SNV	JAK3:NM_000215:exon13:c.C1767A:p.G589G	19p13.11	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
1821	19	18162974	G	A	Pathogenic/Likely pathogenic	PIK3R2	.	.	.	.	.	.	.	.	.	.	19	18162974	18162974	G	A	exonic	PIK3R2	.	nonsynonymous SNV	PIK3R2:NM_005027:exon10:c.G1117A:p.G373R	19p13.11	.	rs587776934	0.0	D	1.0	D	1.0	D	0.000	D	1	D	2.695	M	-0.18	T	-7.38	D	0.895	5.888	27.4	0.999	0.993	D	0.089	D	0.464	T	0.707	0	3.69	0.917	0.877	0.999	0.764	15.323	Tolerated
1822	19	32862521	G	A	Pathogenic/Likely pathogenic	SLC7A9	.	.	.	.	.	.	.	.	.	.	19	32862521	32862521	G	A	exonic	SLC7A9	.	nonsynonymous SNV	SLC7A9:NM_001126335:exon5:c.G544T:p.A182S,SLC7A9:NM_001243036:exon5:c.G544T:p.A182S,SLC7A9:NM_014270:exon5:c.G544T:p.A182S	19q13.11	.	rs79389353	0.062	T	0.286	B	0.318	B	0.000	D	0.989	D	2.47	M	-2.57	D	-2.01	N	0.392	3.797	23.4	0.993	0.700	D	0.320	D	0.733	D	0.554	0	5.54	0.871	0.935	0.955	0.018	19.831	Deleterious
1823	19	35033654	C	G	Pathogenic/Likely pathogenic	SCN1B	.	.	.	.	.	.	.	.	.	.	19	35033654	35033654	C	G	exonic	SCN1B	.	nonsynonymous SNV	SCN1B:NM_001037:exon3:c.C363G:p.C121W,SCN1B:NM_199037:exon3:c.C363G:p.C121W	19q13.11	7.7e-05	rs104894718	0.0	D	1.0	D	0.998	D	0.000	D	1	D	1.745	L	-2.6	D	-9.57	D	0.978	6.115	28.3	0.994	0.939	D	0.587	D	0.722	D	0.707	0	3.17	-0.192	0.049	0.995	0.998	7.271	Deleterious
1824	19	35845430	G	T	Pathogenic/Likely pathogenic	NPHS1	.	.	.	.	.	.	.	.	.	.	19	35845430	35845430	G	T	exonic	NPHS1	.	nonsynonymous SNV	NPHS1:NM_004646:exon14:c.G1868A:p.C623Y	19q13.12	.	.	0.039	D	1.0	D	1.0	D	0.000	D	1.000	D	2.605	M	-5.91	D	-9.39	D	0.97	5.649	26.7	0.996	0.909	D	1.047	D	0.982	D	0.598	0	4.56	0.853	0.934	0.347	0.741	15.207	Deleterious
1825	19	38457545	C	T	Pathogenic, not provided, risk factor	RYR1	.	.	.	.	.	.	.	.	.	.	19	38457545	38457545	C	T	exonic	RYR1	.	nonsynonymous SNV	RYR1:NM_000540:exon17:c.C1840T:p.R614C,RYR1:NM_001042723:exon17:c.C1840T:p.R614C	19q13.2	7.7e-05	rs118192172	0.005	D	1.0	D	0.999	D	0.000	U	1.000	D	2.89	M	-3.86	D	-7.37	D	0.932	7.746	35	0.999	0.888	D	1.012	D	0.918	D	0.707	0	3.76	-0.058	0.852	0.933	0.979	11.066	Deleterious
1826	19	38586150	C	G	Pathogenic/Likely pathogenic	RYR1	.	.	.	.	.	.	.	.	.	.	19	38586150	38586150	C	G	exonic	RYR1	.	nonsynonymous SNV	RYR1:NM_001042723:exon103:c.C14913G:p.F4971L,RYR1:NM_000540:exon104:c.C14928G:p.F4976L	19q13.2	.	rs368874586	0.0	D	0.996	D	0.988	D	0.000	U	0.993	D	3.73	H	-6.07	D	-4.98	D	0.9	2.742	21.0	0.688	0.369	N	1.080	D	0.984	D	0.706	0	-6.39	-1.024	-2.909	0.970	0.064	16.131	Deleterious
1827	19	40395495	C	T	Pathogenic	PRX	.	.	.	.	.	.	.	.	.	.	19	40395495	40395495	C	T	exonic	PRX	.	synonymous SNV	PRX:NM_181882:exon7:c.C2857A:p.R953R	19q13.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
1828	19	41410817	G	A	Pathogenic	BCKDHA	.	.	.	.	.	.	.	.	.	.	19	41410817	41410817	G	A	splicing	BCKDHA	NM_000709:exon2:c.288+1G>A,NM_001164783:exon2:c.288+1G>A	.	.	19q13.2	.	rs398123496	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	5.848	27.3	0.995	0.997	D	.	.	.	.	0.322	0	5.42	0.866	1.048	0.991	0.825	17.984	Deleterious (FATHMM)
1829	19	41422370	G	C	Pathogenic	BCKDHA	.	.	.	.	.	.	.	.	.	.	19	41422370	41422370	G	C	exonic	BCKDHA	.	nonsynonymous SNV	BCKDHA:NM_000709:exon6:c.G853C:p.A285P,BCKDHA:NM_001164783:exon6:c.G853C:p.A285P	19q13.2	.	rs398123508	0.003	D	1.0	D	0.997	D	0.000	D	1	D	4.53	H	-3.95	D	-4.49	D	0.975	5.171	25.5	0.997	0.996	D	1.079	D	0.967	D	0.732	0	4.91	0.917	1.045	0.909	0.490	17.026	Deleterious
1830	19	41422643	G	A	Pathogenic	BCKDHA	.	.	.	.	.	.	.	.	.	.	19	41422643	41422643	G	A	exonic	BCKDHA	.	nonsynonymous SNV	BCKDHA:NM_000709:exon7:c.G868A:p.G290R,BCKDHA:NM_001164783:exon7:c.G865A:p.G289R	19q13.2	.	rs137852871	0.001	D	1.0	D	0.995	D	0.000	D	1	A	3.915	H	-4.45	D	-5.17	D	0.986	6.720	32	0.999	0.987	D	1.090	D	0.968	D	0.732	0	5.69	0.917	1.048	0.991	0.643	18.590	Deleterious
1831	19	41422754	G	A	Pathogenic/Likely pathogenic	BCKDHA	.	.	.	.	.	.	.	.	.	.	19	41422754	41422754	G	A	exonic	BCKDHA	.	nonsynonymous SNV	BCKDHA:NM_000709:exon7:c.G979A:p.E327K,BCKDHA:NM_001164783:exon7:c.G976A:p.E326K	19q13.2	.	rs398123515	0.001	D	1.0	D	0.999	D	0.000	D	1	D	4.885	H	-4.7	D	-3.8	D	0.995	7.899	35	0.999	0.990	D	1.020	D	0.982	D	0.707	0	5.69	0.917	1.048	0.996	0.915	18.590	Deleterious
1832	19	41424504	G	A	Pathogenic	BCKDHA	.	.	.	.	.	.	.	.	.	.	19	41424504	41424504	G	A	exonic	BCKDHA	.	nonsynonymous SNV	BCKDHA:NM_000709:exon9:c.G1234A:p.V412M,BCKDHA:NM_001164783:exon9:c.G1231A:p.V411M	19q13.2	.	rs398123490	0.007	D	1.0	D	0.994	D	0.000	D	1	D	3.38	M	-5.69	D	-2.67	D	0.898	6.417	29.7	0.999	0.963	D	1.064	D	0.981	D	0.707	0	4.26	0.917	1.048	0.997	0.703	12.615	Deleterious
1833	19	41424582	T	A	Pathogenic	BCKDHA	.	.	.	.	.	.	.	.	.	.	19	41424582	41424582	T	A	exonic	BCKDHA	.	nonsynonymous SNV	BCKDHA:NM_000709:exon9:c.T1312A:p.Y438N,BCKDHA:NM_001164783:exon9:c.T1309A:p.Y437N	19q13.2	0.0002	rs137852870	0.0	D	1.0	D	0.998	D	0.000	D	1	A	3.285	M	-5.57	D	-8.3	D	0.882	6.091	28.2	0.992	0.962	D	1.047	D	0.983	D	0.713	0	5.45	0.991	1.061	1.000	0.990	14.498	Deleterious
1834	19	41970275	G	A	Pathogenic	ATP1A3	.	.	.	.	.	.	.	.	.	.	19	41970275	41970275	G	A	exonic	ATP1A3	.	stopgain	ATP1A3:NM_001256213:exon18:c.G2485T:p.E829X,ATP1A3:NM_001256214:exon18:c.G2491T:p.E831X,ATP1A3:NM_152296:exon18:c.G2452T:p.E818X	19q13.2	.	.	.	.	.	.	.	.	0.000	D	1	A	.	.	.	.	.	.	.	13.523	42	0.997	0.971	D	.	.	.	.	0.626	0	3.88	0.868	0.925	0.871	0.920	13.752	Deleterious (FATHMM)
1835	19	41970405	G	A	Pathogenic	ATP1A3	.	.	.	.	.	.	.	.	.	.	19	41970405	41970405	G	A	exonic	ATP1A3	.	nonsynonymous SNV	ATP1A3:NM_001256213:exon17:c.G2434T:p.D812Y,ATP1A3:NM_001256214:exon17:c.G2440T:p.D814Y,ATP1A3:NM_152296:exon17:c.G2401T:p.D801Y	19q13.2	.	rs80356537	0.0	D	1.0	D	1.0	D	0.000	D	1	A	4.38	H	-3.95	D	-6.21	D	0.988	7.412	34	0.995	0.966	D	1.084	D	0.962	D	0.706	0	3.82	0.868	0.850	0.997	0.997	13.626	Deleterious
1836	19	43511454	G	A	Pathogenic/Likely pathogenic	ETHE1	.	.	.	.	.	.	.	.	.	.	19	43511454	43511454	G	A	exonic	ETHE1	.	nonsynonymous SNV	ETHE1:NM_014297:exon4:c.G488T:p.R163L	19q13.31	.	.	0.0	D	1.0	D	0.997	D	0.000	D	1	D	4.095	H	-3.98	D	-6.76	D	0.983	8.089	35	0.998	0.967	D	1.084	D	0.962	D	0.706	0	5.04	0.598	0.920	0.990	0.982	16.347	Deleterious
1837	19	46756276	C	A	Pathogenic	FKRP	.	.	.	.	.	.	.	.	.	.	19	46756276	46756276	C	A	exonic	FKRP	.	nonsynonymous SNV	FKRP:NM_001039885:exon4:c.C826A:p.L276I,FKRP:NM_024301:exon4:c.C826A:p.L276I	19q13.32	0.0005	rs28937900	0.065	T	0.851	P	0.3	B	0.000	D	0.999	A	1.245	L	-5.99	D	-0.85	N	0.716	3.116	22.6	0.969	0.965	D	1.188	D	0.932	D	0.696	0	4.16	0.871	0.739	0.948	0.993	15.372	Deleterious
1838	19	46756837	A	G	Pathogenic	FKRP	.	.	.	.	.	.	.	.	.	.	19	46756837	46756837	A	G	exonic	FKRP	.	nonsynonymous SNV	FKRP:NM_001039885:exon4:c.A1387G:p.N463D,FKRP:NM_024301:exon4:c.A1387G:p.N463D	19q13.32	.	rs121908110	0.0	D	0.999	D	0.991	D	0.000	D	1	A	2.11	M	-6.27	D	-4.31	D	0.368	5.428	26.1	0.997	0.955	D	1.060	D	0.981	D	0.660	0	5.44	1.062	1.140	0.999	0.973	14.473	Deleterious
1839	19	50323685	G	A	Pathogenic	KCNC3	.	.	.	.	.	.	.	.	.	.	19	50323685	50323685	G	A	exonic	KCNC3	.	nonsynonymous SNV	KCNC3:NM_004977:exon2:c.G1268T:p.R423L	19q13.33	.	.	0.0	D	1.0	D	1.0	D	0.004	U	1	D	2.89	M	-5.06	D	-6.23	D	0.797	6.947	33	0.998	0.971	D	1.083	D	0.968	D	0.706	0	3.04	0.787	0.737	0.988	0.935	13.319	Deleterious
1840	19	55151856	G	A	Pathogenic/Likely pathogenic	TNNI3	.	.	.	.	.	.	.	.	.	.	19	55151856	55151856	G	A	exonic	TNNI3	.	unknown	UNKNOWN	19q13.42	.	rs727504275	0.001	D	0.999	D	0.993	D	0.000	D	0.999	D	2.65	M	-4.73	D	-5.87	D	0.767	7.893	35	0.999	0.976	D	1.103	D	0.963	D	0.732	0	4.63	0.871	0.011	0.998	0.998	16.675	Deleterious
1841	19	55151892	G	A	Pathogenic/Likely pathogenic	TNNI3	.	.	.	.	.	.	.	.	.	.	19	55151892	55151892	G	A	exonic	TNNI3	.	unknown	UNKNOWN	19q13.42	.	rs104894729	0.001	D	0.999	D	0.993	D	0.000	D	1.000	D	2.695	M	-4.6	D	-6.49	D	0.741	7.783	35	0.998	0.977	D	1.103	D	0.956	D	0.732	0	4.46	0.871	0.884	0.995	1.000	16.238	Deleterious
1842	19	55151910	G	A	Pathogenic	TNNI3	.	.	.	.	.	.	.	.	.	.	19	55151910	55151910	G	A	exonic	TNNI3	.	unknown	UNKNOWN	19q13.42	.	.	0.25	T	0.317	B	0.059	B	0.000	D	0.996	D	0.46	N	-3.52	D	-2.31	N	0.371	3.834	23.4	0.992	0.882	D	0.255	D	0.646	D	0.745	0	4.46	0.871	0.888	1.000	0.757	16.238	Deleterious
1843	19	55154035	G	A	Pathogenic	TNNI3	.	.	.	.	.	.	.	.	.	.	19	55154035	55154035	G	A	exonic	TNNI3	.	unknown	UNKNOWN	19q13.42	.	.	.	.	.	.	.	.	0.041	N	1	D	.	.	.	.	.	.	.	14.139	44	0.997	0.943	D	.	.	.	.	0.706	0	4.72	0.871	0.887	0.995	0.992	16.802	Deleterious (FATHMM)
1844	19	55154070	G	A	Pathogenic/Likely pathogenic	TNNI3	.	.	.	.	.	.	.	.	.	.	19	55154070	55154070	G	A	exonic	TNNI3	.	unknown	UNKNOWN	19q13.42	.	.	0.001	D	0.984	D	0.849	P	0.000	D	1.000	D	3.3	M	-4.5	D	-6.4	D	0.828	7.682	35	0.999	0.883	D	1.102	D	0.959	D	0.706	0	4.72	0.871	0.887	0.994	0.998	16.802	Deleterious
1845	19	55154071	C	T	Pathogenic/Likely pathogenic	TNNI3	.	.	.	.	.	.	.	.	.	.	19	55154071	55154071	C	T	exonic	TNNI3	.	unknown	UNKNOWN	19q13.42	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.
1846	19	55154094	G	A	Pathogenic/Likely pathogenic	TNNI3	.	.	.	.	.	.	.	.	.	.	19	55154094	55154094	G	A	exonic	TNNI3	.	unknown	UNKNOWN	19q13.42	.	.	0.001	D	0.456	P	0.129	B	0.001	N	0.996	D	0.695	N	-2.96	D	-3.94	D	0.331	5.847	27.3	0.998	0.870	D	0.026	D	0.536	D	0.706	0	4.72	0.871	0.887	0.997	0.995	7.681	Deleterious
1847	19	55154109	C	T	Pathogenic/Likely pathogenic	TNNI3	.	.	.	.	.	.	.	.	.	.	19	55154109	55154109	C	T	exonic	TNNI3	.	unknown	UNKNOWN	19q13.42	.	.	0.001	D	0.074	B	0.047	B	0.000	N	1.000	D	3.1	M	-3.16	D	-4.53	D	0.29	6.461	29.9	0.996	0.977	D	0.615	D	0.807	D	0.706	0	3.63	0.917	0.993	0.990	0.994	13.040	Deleterious
1848	19	55154145	G	A	Pathogenic/Likely pathogenic	TNNI3	.	.	.	.	.	.	.	.	.	.	19	55154145	55154145	G	A	exonic	TNNI3	.	unknown	UNKNOWN	19q13.42	.	.	0.001	D	0.955	P	0.678	P	0.000	D	0.999	D	2.485	M	-3.61	D	-5.67	D	0.61	7.375	34	0.998	0.853	D	0.955	D	0.870	D	0.706	0	4.72	0.871	0.887	0.992	0.944	16.802	Deleterious
1849	19	55154146	C	T	Pathogenic/Likely pathogenic	TNNI3	.	.	.	.	.	.	.	.	.	.	19	55154146	55154146	C	T	exonic	TNNI3	.	unknown	UNKNOWN	19q13.42	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.
1850	19	55154157	G	A	Pathogenic/Likely pathogenic	TNNI3	.	.	.	.	.	.	.	.	.	.	19	55154157	55154157	G	A	exonic	TNNI3	.	unknown	UNKNOWN	19q13.42	.	.	0.001	D	0.909	P	0.649	P	0.002	N	0.968	D	2.675	M	-3.47	D	-5.67	D	0.717	7.376	34	0.998	0.520	D	0.901	D	0.853	D	0.706	0	4.72	0.871	0.887	1.000	0.995	10.523	Deleterious
1851	19	55154172	G	A	Pathogenic/Likely pathogenic	TNNI3	.	.	.	.	.	.	.	.	.	.	19	55154172	55154172	G	A	exonic	TNNI3	.	unknown	UNKNOWN	19q13.42	.	.	0.007	D	0.955	P	0.75	P	0.000	D	0.995	D	2.635	M	-3.78	D	-4.77	D	0.777	7.153	34	0.997	0.556	D	1.019	D	0.902	D	0.706	0	4.72	0.871	0.887	0.980	0.846	16.802	Deleterious
1852	20	3918695	G	A	Pathogenic	PANK2	.	.	.	.	.	.	.	.	.	.	20	3918695	3918695	G	A	exonic	PANK2	.	nonsynonymous SNV	PANK2:NM_024960:exon6:c.G688A:p.G230R,PANK2:NM_153638:exon6:c.G1561A:p.G521R,PANK2:NM_153640:exon6:c.G688A:p.G230R	20p13	0.0002	rs137852959	0.0	D	1.0	D	1.0	D	0.000	D	1	A	3.65	H	-8.82	D	-7.8	D	0.995	6.931	33	0.999	0.992	D	0.910	D	0.998	D	0.707	0	5.12	0.917	1.048	1.000	0.998	16.099	Deleterious
1853	20	10656450	C	T	Pathogenic	JAG1	.	.	.	.	.	.	.	.	.	.	20	10656450	10656450	C	T	exonic	JAG1	.	synonymous SNV	JAG1:NM_000214:exon5:c.C703A:p.R235R	20p12.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
1854	20	18510875	C	T	Pathogenic	SEC23B	.	.	.	.	.	.	.	.	.	.	20	18510875	18510875	C	T	exonic	SEC23B	.	nonsynonymous SNV	SEC23B:NM_001172745:exon2:c.C40T:p.R14W,SEC23B:NM_001172746:exon2:c.C40T:p.R14W,SEC23B:NM_006363:exon2:c.C40T:p.R14W,SEC23B:NM_032985:exon2:c.C40T:p.R14W,SEC23B:NM_032986:exon2:c.C40T:p.R14W	20p11.23	0.0002	rs121918222	0.055	T	0.999	D	0.899	P	0.000	D	1	A	2.57	M	-1.68	D	-5.36	D	0.845	7.293	34	0.999	0.937	D	0.625	D	0.681	D	0.707	0	4.12	0.871	0.935	1.000	0.998	13.957	Deleterious
1855	20	44406195	C	T	Pathogenic	HNF4A	.	.	.	.	.	.	.	.	.	.	20	44406195	44406195	C	T	exonic	HNF4A	.	nonsynonymous SNV	HNF4A:NM_000457:exon2:c.C253T:p.R85W,HNF4A:NM_001030003:exon2:c.C187T:p.R63W,HNF4A:NM_001030004:exon2:c.C187T:p.R63W,HNF4A:NM_175914:exon2:c.C187T:p.R63W,HNF4A:NM_178849:exon2:c.C253T:p.R85W,HNF4A:NM_178850:exon2:c.C253T:p.R85W,HNF4A:NM_001258355:exon3:c.C232T:p.R78W,HNF4A:NM_001287182:exon3:c.C178T:p.R60W,HNF4A:NM_001287183:exon3:c.C178T:p.R60W,HNF4A:NM_001287184:exon3:c.C178T:p.R60W	20q13.12	.	rs587777732	0.0	D	1.0	D	1.0	D	0.000	D	1	D	4.5	H	-4.62	D	-6.89	D	0.981	7.314	34	0.999	0.816	D	1.054	D	0.974	D	0.497	0	4.21	-0.025	-0.036	0.998	0.999	12.164	Deleterious
1856	20	63413556	C	T	Pathogenic	KCNQ2	.	.	.	.	.	.	.	.	.	.	20	63413556	63413556	C	T	exonic	KCNQ2	.	synonymous SNV	KCNQ2:NM_004518:exon13:c.C1573A:p.R525R,KCNQ2:NM_172106:exon14:c.C1603A:p.R535R,KCNQ2:NM_172108:exon14:c.C1564A:p.R522R,KCNQ2:NM_172107:exon15:c.C1657A:p.R553R	20q13.33	.	rs759584387	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
1857	20	63415086	C	T	Pathogenic	KCNQ2	.	.	.	.	.	.	.	.	.	.	20	63415086	63415086	C	T	exonic	KCNQ2	.	synonymous SNV	KCNQ2:NM_004518:exon11:c.C1258A:p.R420R,KCNQ2:NM_172106:exon12:c.C1288A:p.R430R,KCNQ2:NM_172108:exon12:c.C1252A:p.R418R,KCNQ2:NM_172107:exon13:c.C1342A:p.R448R	20q13.33	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
1858	20	63439644	C	T	Pathogenic	KCNQ2	.	.	.	.	.	.	.	.	.	.	20	63439644	63439644	C	T	exonic	KCNQ2	.	nonsynonymous SNV	KCNQ2:NM_004518:exon6:c.C881A:p.A294E,KCNQ2:NM_172106:exon6:c.C881A:p.A294E,KCNQ2:NM_172107:exon6:c.C881A:p.A294E,KCNQ2:NM_172108:exon6:c.C881A:p.A294E,KCNQ2:NM_172109:exon6:c.C881A:p.A294E	20q13.33	.	.	0.0	D	0.999	D	0.994	D	0.000	D	1.000	D	3.415	M	-5.03	D	-3.36	D	0.836	5.196	25.5	0.995	0.913	D	1.070	D	0.976	D	0.696	0	4.01	0.917	0.935	0.159	0.451	16.480	Deleterious
1859	20	63442429	G	A	Pathogenic/Likely pathogenic	KCNQ2	.	.	.	.	.	.	.	.	.	.	20	63442429	63442429	G	A	exonic	KCNQ2	.	nonsynonymous SNV	KCNQ2:NM_004518:exon5:c.G793T:p.A265S,KCNQ2:NM_172106:exon5:c.G793T:p.A265S,KCNQ2:NM_172107:exon5:c.G793T:p.A265S,KCNQ2:NM_172108:exon5:c.G793T:p.A265S,KCNQ2:NM_172109:exon5:c.G793T:p.A265S	20q13.33	.	.	0.0	D	0.743	P	0.557	P	0.015	N	1	D	1.47	L	-4.37	D	-2.68	D	0.698	5.895	27.4	0.996	0.941	D	0.960	D	0.877	D	0.713	0	3.38	0.871	0.921	0.992	0.245	15.174	Deleterious
1860	20	63444711	G	A	Pathogenic/Likely pathogenic	KCNQ2	.	.	.	.	.	.	.	.	.	.	20	63444711	63444711	G	A	exonic	KCNQ2	.	nonsynonymous SNV	KCNQ2:NM_004518:exon4:c.G638T:p.R213L,KCNQ2:NM_172106:exon4:c.G638T:p.R213L,KCNQ2:NM_172107:exon4:c.G638T:p.R213L,KCNQ2:NM_172108:exon4:c.G638T:p.R213L,KCNQ2:NM_172109:exon4:c.G638T:p.R213L	20q13.33	.	.	0.0	D	1.0	D	0.999	D	0.003	N	1	D	3.21	M	-5.18	D	-6.23	D	0.911	7.010	33	0.999	0.965	D	1.078	D	0.975	D	0.696	0	4.05	0.871	0.792	0.978	0.671	16.577	Deleterious
1861	20	63444748	C	T	Pathogenic	KCNQ2	.	.	.	.	.	.	.	.	.	.	20	63444748	63444748	C	T	exonic	KCNQ2	.	nonsynonymous SNV	KCNQ2:NM_004518:exon4:c.C601A:p.R201S,KCNQ2:NM_172106:exon4:c.C601A:p.R201S,KCNQ2:NM_172107:exon4:c.C601A:p.R201S,KCNQ2:NM_172108:exon4:c.C601A:p.R201S,KCNQ2:NM_172109:exon4:c.C601A:p.R201S	20q13.33	.	.	0.001	D	1.0	D	0.996	D	0.001	N	1.000	D	2.725	M	-5.32	D	-4.32	D	0.974	6.339	29.3	0.998	0.810	D	1.020	D	0.984	D	0.696	0	2.84	-0.045	0.885	0.880	0.996	12.583	Deleterious
1862	21	31667359	T	C	Pathogenic	SOD1	.	.	.	.	.	.	.	.	.	.	21	31667359	31667359	T	C	exonic	SOD1	.	nonsynonymous SNV	SOD1:NM_000454:exon4:c.T341C:p.I114T	21q22.11	.	rs121912441	0.004	D	0.999	D	0.993	D	0.000	D	1	D	3.57	H	-6.47	D	-4.73	D	0.952	5.512	26.3	0.998	0.967	D	0.972	D	0.991	D	0.722	0	4.73	0.970	1.061	0.998	1.000	14.658	Deleterious
1863	21	34370639	T	C	Pathogenic/Likely pathogenic, not provided	KCNE2	.	.	.	.	.	.	.	.	.	.	21	34370639	34370639	T	C	exonic	KCNE2	.	nonsynonymous SNV	KCNE2:NM_172201:exon2:c.T161C:p.M54T	21q22.11	0.0002	rs74315447	0.005	D	0.959	D	0.551	P	0.000	D	0.993	A	1.5	L	-2.98	D	-3.28	D	0.909	4.817	24.8	0.989	0.897	D	0.601	D	0.726	D	0.549	0	5.66	0.991	1.061	1.000	1.000	15.564	Deleterious
1864	21	34449409	G	A	Pathogenic/Likely pathogenic, not provided	KCNE1	.	.	.	.	.	.	.	.	.	.	21	34449409	34449409	G	A	exonic	KCNE1	.	nonsynonymous SNV	KCNE1:NM_001127670:exon2:c.G226T:p.D76Y,KCNE1:NM_001270404:exon2:c.G226T:p.D76Y,KCNE1:NM_001127668:exon3:c.G226T:p.D76Y,KCNE1:NM_001127669:exon3:c.G226T:p.D76Y,KCNE1:NM_001270402:exon3:c.G226T:p.D76Y,KCNE1:NM_001270403:exon3:c.G226T:p.D76Y,KCNE1:NM_001270405:exon3:c.G226T:p.D76Y,KCNE1:NM_000219:exon4:c.G226T:p.D76Y	21q22.12	.	.	0.001	D	1.0	D	0.999	D	0.000	D	0.997	D	2.815	M	-3.66	D	-7.02	D	0.943	5.440	26.1	0.990	0.959	D	1.022	D	0.911	D	0.554	0	5.16	0.871	0.807	0.975	0.096	13.035	Deleterious
1865	21	37486563	C	T	Pathogenic	DYRK1A	.	.	.	.	.	.	.	.	.	.	21	37486563	37486563	C	T	exonic	DYRK1A	.	stopgain	DYRK1A:NM_001396:exon5:c.C613T:p.R205X,DYRK1A:NM_130436:exon5:c.C586T:p.R196X,DYRK1A:NM_130438:exon5:c.C613T:p.R205X,DYRK1A:NM_101395:exon7:c.C613T:p.R205X	21q22.13	.	rs724159949	.	.	.	.	.	.	0.000	D	1	A	.	.	.	.	.	.	.	13.056	41	0.998	0.967	D	.	.	.	.	0.732	0	5.54	0.871	0.892	1.000	0.998	16.133	Deleterious (FATHMM)
1866	21	37490393	C	T	Pathogenic/Likely pathogenic	DYRK1A	.	.	.	.	.	.	.	.	.	.	21	37490393	37490393	C	T	exonic	DYRK1A	.	nonsynonymous SNV	DYRK1A:NM_001396:exon6:c.C883T:p.L295F,DYRK1A:NM_130436:exon6:c.C856T:p.L286F,DYRK1A:NM_130438:exon6:c.C883T:p.L295F,DYRK1A:NM_101395:exon8:c.C883T:p.L295F	21q22.13	.	rs797044526	0.001	D	1.0	D	1.0	D	0.000	D	1	D	2.035	M	-0.48	T	-3.71	D	0.949	6.432	29.8	0.999	0.945	D	0.062	D	0.542	D	0.707	0	5.91	0.871	0.883	1.000	0.998	20.299	Deleterious
1867	21	37505442	C	T	Pathogenic	DYRK1A	.	.	.	.	.	.	.	.	.	.	21	37505442	37505442	C	T	exonic	DYRK1A	.	stopgain	DYRK1A:NM_001396:exon9:c.C1399T:p.R467X,DYRK1A:NM_130436:exon9:c.C1372T:p.R458X,DYRK1A:NM_130438:exon9:c.C1399T:p.R467X,DYRK1A:NM_101395:exon11:c.C1399T:p.R467X	21q22.13	.	rs797044520	.	.	.	.	.	.	0.000	D	1	A	.	.	.	.	.	.	.	13.345	41	0.998	0.972	D	.	.	.	.	0.707	0	4.87	-0.058	0.935	0.998	0.998	15.731	Deleterious (FATHMM)
1868	21	42388436	C	A	Pathogenic/Likely pathogenic	TMPRSS3	.	.	.	.	.	.	.	.	.	.	21	42388436	42388436	C	A	exonic	TMPRSS3	.	nonsynonymous SNV	TMPRSS3:NM_032404:exon2:c.C32T:p.A11V,TMPRSS3:NM_001256317:exon5:c.C413T:p.A138V,TMPRSS3:NM_024022:exon5:c.C413T:p.A138V,TMPRSS3:NM_032405:exon5:c.C413T:p.A138V	21q22.3	.	.	0.044	D	0.958	D	0.72	P	0.005	N	0.980	D	2.6	M	-0.89	T	-2.91	D	0.252	5.734	26.9	0.999	0.873	D	0.038	D	0.484	T	0.757	0	4.03	-0.044	0.998	0.063	0.497	11.920	Tolerated
1869	21	42388524	C	T	Pathogenic/Likely pathogenic	TMPRSS3	.	.	.	.	.	.	.	.	.	.	21	42388524	42388524	C	T	exonic	TMPRSS3	.	synonymous SNV	TMPRSS3:NM_001256317:exon5:c.C325A:p.R109R,TMPRSS3:NM_024022:exon5:c.C325A:p.R109R,TMPRSS3:NM_032405:exon5:c.C325A:p.R109R	21q22.3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
1870	21	43058862	G	A	Pathogenic	CBS	.	.	.	.	.	.	.	.	.	.	21	43058862	43058862	G	A	exonic	CBS	.	nonsynonymous SNV	CBS:NM_000071:exon14:c.G1330T:p.D444Y,CBS:NM_001178008:exon14:c.G1330T:p.D444Y,CBS:NM_001178009:exon14:c.G1330T:p.D444Y	21q22.3	.	.	0.001	D	1.0	D	0.994	D	0.000	D	1	D	3.605	H	-3.25	D	-7.17	D	0.945	7.464	34	0.995	0.933	D	0.492	D	0.604	D	0.672	0	4.71	0.871	0.867	0.994	0.977	17.349	Deleterious
1871	21	43058970	A	C	Pathogenic	CBS	.	.	.	.	.	.	.	.	.	.	21	43058970	43058970	A	C	splicing	CBS	NM_000071:exon14:c.1224-2T>G,NM_001178008:exon14:c.1224-2T>G,NM_001178009:exon14:c.1224-2T>G	.	.	21q22.3	.	.	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	4.642	24.5	0.992	0.965	D	.	.	.	.	0.257	0	4.51	0.991	0.982	0.963	0.980	13.568	Deleterious (FATHMM)
1872	21	43060528	C	T	Pathogenic/Likely pathogenic	CBS	.	.	.	.	.	.	.	.	.	.	21	43060528	43060528	C	T	exonic	CBS	.	nonsynonymous SNV	CBS:NM_000071:exon12:c.C1058A:p.T353K,CBS:NM_001178008:exon12:c.C1058A:p.T353K,CBS:NM_001178009:exon12:c.C1058A:p.T353K	21q22.3	.	.	0.002	D	0.07	B	0.062	B	0.004	N	0.971	N	2.08	M	-5.58	D	-1.12	N	0.651	3.282	22.8	0.943	0.915	D	0.893	D	0.935	D	0.646	0	3.2	0.917	0.824	0.002	0.002	9.789	Deleterious
1873	21	43062311	G	A	Pathogenic/Likely pathogenic	CBS	.	.	.	.	.	.	.	.	.	.	21	43062311	43062311	G	A	exonic	CBS	.	nonsynonymous SNV	CBS:NM_000071:exon11:c.G1039T:p.G347C,CBS:NM_001178008:exon11:c.G1039T:p.G347C,CBS:NM_001178009:exon11:c.G1039T:p.G347C	21q22.3	.	rs771298943	0.0	D	1.0	D	0.999	D	0.000	D	1	D	4.745	H	-4.35	D	-8.74	D	0.988	7.224	34	0.998	0.965	D	1.056	D	0.975	D	0.707	0	5.28	0.871	0.870	0.316	0.662	16.724	Deleterious
1874	21	43062344	C	T	Pathogenic	CBS	.	.	.	.	.	.	.	.	.	.	21	43062344	43062344	C	T	exonic	CBS	.	nonsynonymous SNV	CBS:NM_000071:exon11:c.C1006A:p.R336S,CBS:NM_001178008:exon11:c.C1006A:p.R336S,CBS:NM_001178009:exon11:c.C1006A:p.R336S	21q22.3	.	.	0.001	D	1.0	D	0.996	D	0.000	D	1	D	3.55	H	-4.33	D	-5.89	D	0.954	6.329	29.3	0.997	0.975	D	1.100	D	0.962	D	0.707	0	5.28	0.917	0.974	0.949	0.981	16.724	Deleterious
1875	21	43062381	G	A	Pathogenic	CBS	.	.	.	.	.	.	.	.	.	.	21	43062381	43062381	G	A	exonic	CBS	.	nonsynonymous SNV	CBS:NM_000071:exon11:c.G969T:p.W323C,CBS:NM_001178008:exon11:c.G969T:p.W323C,CBS:NM_001178009:exon11:c.G969T:p.W323C	21q22.3	.	.	0.0	D	1.0	D	1.0	D	0.000	D	1	D	2.555	M	-5.52	D	-11.92	D	0.952	6.655	32	0.994	0.965	D	1.092	D	0.973	D	0.706	0	5.04	0.871	0.870	0.999	0.995	16.198	Deleterious
1876	21	43062988	G	A	Pathogenic	CBS	.	.	.	.	.	.	.	.	.	.	21	43062988	43062988	G	A	exonic	CBS	.	nonsynonymous SNV	CBS:NM_000071:exon10:c.G919T:p.G307C,CBS:NM_001178008:exon10:c.G919T:p.G307C,CBS:NM_001178009:exon10:c.G919T:p.G307C	21q22.3	.	.	0.001	D	1.0	D	1.0	D	0.000	D	1	D	4.595	H	-5.87	D	-8.56	D	0.976	7.110	34	0.998	0.944	D	0.946	D	0.991	D	0.707	0	4.67	0.871	0.739	0.994	0.980	15.369	Deleterious
1877	21	43063074	T	C	Pathogenic	CBS	.	.	.	.	.	.	.	.	.	.	21	43063074	43063074	T	C	exonic	CBS	.	nonsynonymous SNV	CBS:NM_000071:exon10:c.T833G:p.I278S,CBS:NM_001178008:exon10:c.T833G:p.I278S,CBS:NM_001178009:exon10:c.T833G:p.I278S	21q22.3	.	.	0.0	D	0.99	D	0.964	D	0.000	D	0.974	D	3.71	H	-4.57	D	-5.34	D	0.961	4.478	24.2	0.990	0.945	D	1.079	D	0.960	D	0.706	0	3.52	1.062	0.939	0.927	0.821	8.498	Deleterious
1878	21	43063943	C	T	Pathogenic	CBS	.	.	.	.	.	.	.	.	.	.	21	43063943	43063943	C	T	exonic	CBS	.	nonsynonymous SNV	CBS:NM_000071:exon9:c.C785A:p.T262K,CBS:NM_001178008:exon9:c.C785A:p.T262K,CBS:NM_001178009:exon9:c.C785A:p.T262K	21q22.3	.	.	0.001	D	1.0	D	0.999	D	0.000	D	1.000	D	3.605	H	-4.19	D	-4.79	D	0.859	7.189	34	0.995	0.975	D	1.103	D	0.954	D	0.722	0	4.95	0.917	0.824	0.981	0.982	15.997	Deleterious
1879	21	43063958	C	T	Pathogenic/Likely pathogenic	CBS	.	.	.	.	.	.	.	.	.	.	21	43063958	43063958	C	T	exonic	CBS	.	nonsynonymous SNV	CBS:NM_000071:exon9:c.C770A:p.T257K,CBS:NM_001178008:exon9:c.C770A:p.T257K,CBS:NM_001178009:exon9:c.C770A:p.T257K	21q22.3	.	.	0.0	D	1.0	D	1.0	D	0.000	D	1.000	D	4.68	H	-5.81	D	-6.0	D	0.751	5.860	27.3	0.990	0.966	D	0.987	D	0.989	D	0.722	0	4.06	0.917	0.824	0.996	0.929	12.621	Deleterious
1880	21	43066264	G	A	Pathogenic/Likely pathogenic	CBS	.	.	.	.	.	.	.	.	.	.	21	43066264	43066264	G	A	exonic	CBS	.	stopgain	CBS:NM_000071:exon5:c.G430T:p.E144X,CBS:NM_001178008:exon5:c.G430T:p.E144X,CBS:NM_001178009:exon5:c.G430T:p.E144X	21q22.3	.	.	.	.	.	.	.	.	0.000	D	1	A	.	.	.	.	.	.	.	9.597	36	0.994	0.879	D	.	.	.	.	0.707	0	4.33	0.871	0.785	0.945	0.178	13.829	Deleterious (FATHMM)
1881	21	43066332	G	A	Pathogenic/Likely pathogenic	CBS	.	.	.	.	.	.	.	.	.	.	21	43066332	43066332	G	A	exonic	CBS	.	nonsynonymous SNV	CBS:NM_000071:exon5:c.G362T:p.R121L,CBS:NM_001178008:exon5:c.G362T:p.R121L,CBS:NM_001178009:exon5:c.G362T:p.R121L	21q22.3	.	rs770095972	0.0	D	1.0	D	1.0	D	0.000	D	1.000	D	4.745	H	-5.11	D	-6.96	D	0.995	7.320	34	0.998	0.896	D	1.016	D	0.984	D	0.707	0	4.38	0.871	0.785	0.996	0.999	11.816	Deleterious
1882	21	43066369	T	C	Pathogenic	CBS	.	.	.	.	.	.	.	.	.	.	21	43066369	43066369	T	C	exonic	CBS	.	nonsynonymous SNV	CBS:NM_000071:exon5:c.T325G:p.C109G,CBS:NM_001178008:exon5:c.T325G:p.C109G,CBS:NM_001178009:exon5:c.T325G:p.C109G	21q22.3	.	.	0.0	D	0.999	D	0.997	D	0.000	D	1	D	3.11	M	-4.17	D	-11.82	D	0.951	5.325	25.8	0.983	0.932	D	1.091	D	0.944	D	0.707	0	5.36	1.062	0.999	1.000	0.999	13.598	Deleterious
1883	21	43068519	G	C	Pathogenic/Likely pathogenic	CBS	.	.	.	.	.	.	.	.	.	.	21	43068519	43068519	G	C	exonic	CBS	.	synonymous SNV	CBS:NM_000071:exon4:c.G306G:p.K102K,CBS:NM_001178008:exon4:c.G306G:p.K102K,CBS:NM_001178009:exon4:c.G306G:p.K102K	21q22.3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
1884	21	43068592	C	G	Pathogenic/Likely pathogenic	CBS	.	.	.	.	.	.	.	.	.	.	21	43068592	43068592	C	G	exonic	CBS	.	synonymous SNV	CBS:NM_000071:exon4:c.C233C:p.P78P,CBS:NM_001178008:exon4:c.C233C:p.P78P,CBS:NM_001178009:exon4:c.C233C:p.P78P	21q22.3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
1885	21	43072048	C	T	Pathogenic	CBS	.	.	.	.	.	.	.	.	.	.	21	43072048	43072048	C	T	exonic	CBS	.	nonsynonymous SNV	CBS:NM_000071:exon3:c.C146A:p.P49Q,CBS:NM_001178008:exon3:c.C146A:p.P49Q,CBS:NM_001178009:exon3:c.C146A:p.P49Q	21q22.3	.	.	0.04	D	0.674	P	0.383	B	0.000	D	1.000	D	2.56	M	-4.45	D	-5.48	D	0.778	6.097	28.2	0.991	0.950	D	1.122	D	0.967	D	0.722	0	5.64	0.917	0.877	0.791	0.686	17.497	Deleterious
1886	21	43774297	C	T	Pathogenic	CSTB	.	.	.	.	.	.	.	.	.	.	21	43774297	43774297	C	T	exonic	CSTB	.	synonymous SNV	CSTB:NM_000100:exon3:c.C202A:p.R68R	21q22.3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
1887	21	43774760	G	C	Pathogenic	CSTB	.	.	.	.	.	.	.	.	.	.	21	43774760	43774760	G	C	splicing	CSTB	NM_000100:exon2:c.67-1C>G	.	.	21q22.3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.
1888	21	44287085	C	T	Pathogenic	AIRE	.	.	.	.	.	.	.	.	.	.	21	44287085	44287085	C	T	exonic	AIRE	.	stopgain	AIRE:NM_000383:exon3:c.C415T:p.R139X	21q22.3	.	rs121434256	.	.	.	.	.	.	0.217	N	1	A	.	.	.	.	.	.	.	7.169	34	0.994	0.076	N	.	.	.	.	0.598	0	0.183	-0.048	-0.004	0.015	0.003	5.907	Deleterious (DANN)
1889	21	44289773	C	T	Pathogenic	AIRE	.	.	.	.	.	.	.	.	.	.	21	44289773	44289773	C	T	exonic	AIRE	.	stopgain	AIRE:NM_000383:exon6:c.C769T:p.R257X	21q22.3	7.7e-05	rs121434254	.	.	.	.	.	.	0.130	N	1	A	.	.	.	.	.	.	.	9.432	35	0.997	0.619	D	.	.	.	.	0.581	0	2.25	0.033	0.881	0.035	0.848	5.466	Deleterious (FATHMM)
1890	21	45989129	G	A	Pathogenic	COL6A1	.	.	.	.	.	.	.	.	.	.	21	45989129	45989129	G	A	exonic	COL6A1	.	nonsynonymous SNV	COL6A1:NM_001848:exon9:c.G850A:p.G284R	21q22.3	.	rs121912938	0.0	D	1.0	D	0.99	D	0.001	U	1	A	3.4	M	-6.29	D	-6.65	D	0.986	5.199	25.5	0.999	0.992	D	0.986	D	0.988	D	0.696	0	3.6	0.917	0.902	0.971	0.794	15.389	Deleterious
1891	21	45989617	G	A	Pathogenic	COL6A1	.	.	.	.	.	.	.	.	.	.	21	45989617	45989617	G	A	exonic	COL6A1	.	nonsynonymous SNV	COL6A1:NM_001848:exon10:c.G868A:p.G290R	21q22.3	.	rs121912939	0.0	D	1.0	D	1.0	D	0.000	U	1	D	4	H	-6.0	D	-5.5	D	0.992	5.483	26.2	0.999	0.988	D	0.971	D	0.990	D	0.718	0	4.58	0.917	0.998	0.948	0.899	17.386	Deleterious
1892	21	46116010	G	A	Pathogenic/Likely pathogenic	COL6A2	.	.	.	.	.	.	.	.	.	.	21	46116010	46116010	G	A	exonic	COL6A2	.	nonsynonymous SNV	COL6A2:NM_001849:exon7:c.G857A:p.G286E,COL6A2:NM_058174:exon7:c.G857A:p.G286E,COL6A2:NM_058175:exon7:c.G857A:p.G286E	21q22.3	.	rs727502827	0.0	D	1.0	D	0.996	D	0.000	D	1	D	3.8	H	-5.52	D	-6.32	D	0.963	6.186	28.6	0.997	0.954	D	1.007	D	0.986	D	0.696	0	4.26	0.630	1.048	0.398	0.989	17.047	Deleterious
1893	21	46117916	C	T	Pathogenic	COL6A2	.	.	.	.	.	.	.	.	.	.	21	46117916	46117916	C	T	exonic	COL6A2	.	stopgain	COL6A2:NM_001849:exon12:c.C1096T:p.R366X,COL6A2:NM_058174:exon12:c.C1096T:p.R366X,COL6A2:NM_058175:exon12:c.C1096T:p.R366X	21q22.3	.	rs387906609	.	.	.	.	.	.	0.983	N	1	A	.	.	.	.	.	.	.	9.402	35	0.995	0.959	D	.	.	.	.	0.696	0	3.57	0.871	0.036	0.928	0.401	11.990	Deleterious (FATHMM)
1894	21	46125509	G	A	Pathogenic	COL6A2	.	.	.	.	.	.	.	.	.	.	21	46125509	46125509	G	A	exonic	COL6A2	.	nonsynonymous SNV	COL6A2:NM_001849:exon25:c.G1861A:p.D621N,COL6A2:NM_058174:exon25:c.G1861A:p.D621N,COL6A2:NM_058175:exon25:c.G1861A:p.D621N	21q22.3	.	rs267606750	0.0	D	1.0	D	0.999	D	0.000	D	1	D	3.76	H	-4.64	D	-4.32	D	0.407	7.048	33	0.999	0.986	D	1.087	D	0.970	D	0.696	0	4.07	0.897	0.986	1.000	0.998	16.254	Deleterious
1895	22	28695187	C	T	Pathogenic/Likely pathogenic	CHEK2	.	.	.	.	.	.	.	.	.	.	22	28695187	28695187	C	T	exonic	CHEK2	.	nonsynonymous SNV	CHEK2:NM_145862:exon11:c.C1228A:p.Q410K,CHEK2:NM_007194:exon12:c.C1315A:p.Q439K,CHEK2:NM_001005735:exon13:c.C1444A:p.Q482K,CHEK2:NM_001257387:exon13:c.C652A:p.Q218K	22q12.1	.	.	0.169	T	1.0	D	0.993	D	0.000	D	1	D	0.295	N	-0.07	T	-3.44	D	0.89	5.347	25.9	0.995	0.987	D	-0.466	T	0.288	T	0.707	0	5.81	0.917	1.047	1.000	1.000	19.054	Tolerated
1896	22	28725242	G	A	Pathogenic	CHEK2	.	.	.	.	.	.	.	.	.	.	22	28725242	28725242	G	A	splicing	CHEK2	NM_145862:exon3:c.444+1C>T,NM_007194:exon3:c.444+1C>T,NM_001005735:exon4:c.573+1C>T	.	.	22q12.1	.	rs121908698	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	3.206	22.7	0.954	0.943	D	.	.	.	.	0.295	0	4.86	0.871	0.892	0.918	0.984	14.008	Deleterious (FATHMM)
1897	22	28725242	G	T	Pathogenic/Likely pathogenic, not provided	CHEK2	.	.	.	.	.	.	.	.	.	.	22	28725242	28725242	G	T	splicing	CHEK2	NM_145862:exon3:c.444+1C>A,NM_007194:exon3:c.444+1C>A,NM_001005735:exon4:c.573+1C>A	.	.	22q12.1	.	rs121908698	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	3.182	22.7	0.955	0.919	D	.	.	.	.	0.295	0	4.86	0.871	0.892	0.918	0.984	14.008	Deleterious (FATHMM)
1898	22	28725254	C	T	Pathogenic/Likely pathogenic, not provided	CHEK2	.	.	.	.	.	.	.	.	.	.	22	28725254	28725254	C	T	exonic	CHEK2	.	synonymous SNV	CHEK2:NM_007194:exon3:c.C433A:p.R145R,CHEK2:NM_145862:exon3:c.C433A:p.R145R,CHEK2:NM_001005735:exon4:c.C562A:p.R188R	22q12.1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
1899	22	28725278	C	T	Pathogenic/Likely pathogenic	CHEK2	.	.	.	.	.	.	.	.	.	.	22	28725278	28725278	C	T	exonic	CHEK2	.	synonymous SNV	CHEK2:NM_007194:exon3:c.C409A:p.R137R,CHEK2:NM_145862:exon3:c.C409A:p.R137R,CHEK2:NM_001005735:exon4:c.C538A:p.R180R	22q12.1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
1900	22	28734401	T	A	Pathogenic/Likely pathogenic	CHEK2	.	.	.	.	.	.	.	.	.	.	22	28734401	28734401	T	A	splicing	CHEK2	NM_145862:exon2:c.319+2A>T,NM_007194:exon2:c.319+2A>T,NM_001005735:exon2:c.319+2A>T	.	.	22q12.1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.
1901	22	28734439	C	T	Pathogenic	CHEK2	.	.	.	.	.	.	.	.	.	.	22	28734439	28734439	C	T	exonic	CHEK2	.	synonymous SNV	CHEK2:NM_001005735:exon2:c.C283A:p.R95R,CHEK2:NM_007194:exon2:c.C283A:p.R95R,CHEK2:NM_145862:exon2:c.C283A:p.R95R	22q12.1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
1902	22	28734443	G	A	Pathogenic	CHEK2	.	.	.	.	.	.	.	.	.	.	22	28734443	28734443	G	A	exonic	CHEK2	.	nonsynonymous SNV	CHEK2:NM_001005735:exon2:c.G279T:p.W93C,CHEK2:NM_007194:exon2:c.G279T:p.W93C,CHEK2:NM_145862:exon2:c.G279T:p.W93C	22q12.1	.	.	0.0	D	1.0	D	1.0	D	0.000	D	1	D	1.905	M	2.32	T	-4.44	D	0.92	6.907	33	0.993	0.960	D	0.803	D	0.828	D	0.707	0	5.42	0.871	0.836	0.831	0.996	18.572	Deleterious
1903	22	28734517	C	T	Pathogenic/Likely pathogenic	CHEK2	.	.	.	.	.	.	.	.	.	.	22	28734517	28734517	C	T	exonic	CHEK2	.	nonsynonymous SNV	CHEK2:NM_001005735:exon2:c.C205A:p.Q69K,CHEK2:NM_007194:exon2:c.C205A:p.Q69K,CHEK2:NM_145862:exon2:c.C205A:p.Q69K	22q12.1	.	rs768384031	0.013	D	0.996	D	0.979	D	0.000	D	1	D	1.845	L	2.21	T	-1.59	N	0.709	6.113	28.3	0.996	0.957	D	0.903	D	0.868	D	0.707	0	5.42	0.917	0.935	0.994	1.000	18.572	Deleterious
1904	22	28734571	C	T	Pathogenic	CHEK2	.	.	.	.	.	.	.	.	.	.	22	28734571	28734571	C	T	exonic	CHEK2	.	nonsynonymous SNV	CHEK2:NM_001005735:exon2:c.C151A:p.Q51K,CHEK2:NM_007194:exon2:c.C151A:p.Q51K,CHEK2:NM_145862:exon2:c.C151A:p.Q51K	22q12.1	.	.	0.555	T	0.996	D	0.979	D	0.003	N	1	D	1.355	L	2.35	T	-0.63	N	0.632	4.241	23.9	0.993	0.957	D	0.392	D	0.811	D	0.707	0	5.42	0.917	0.935	0.980	0.957	18.572	Deleterious
1905	22	28734637	C	T	Pathogenic	CHEK2	.	.	.	.	.	.	.	.	.	.	22	28734637	28734637	C	T	exonic	CHEK2	.	nonsynonymous SNV	CHEK2:NM_001005735:exon2:c.C85A:p.Q29K,CHEK2:NM_007194:exon2:c.C85A:p.Q29K,CHEK2:NM_145862:exon2:c.C85A:p.Q29K	22q12.1	.	.	0.037	D	0.065	B	0.035	B	0.761	N	1	D	0.695	N	0.82	T	-0.38	N	0.291	2.040	16.47	0.920	0.860	D	-0.376	T	0.606	D	0.732	0	3.61	0.630	0.935	0.024	0.335	9.268	Deleterious
1906	22	38112212	T	G	Pathogenic	PLA2G6	.	.	.	.	.	.	.	.	.	.	22	38112212	38112212	T	G	exonic	PLA2G6	.	synonymous SNV	PLA2G6:NM_001004426:exon16:c.T2208C:p.Y736Y,PLA2G6:NM_001199562:exon16:c.T2208C:p.Y736Y,PLA2G6:NM_003560:exon17:c.T2370C:p.Y790Y	22q13.1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
1907	22	38112565	G	C	Pathogenic	PLA2G6	.	.	.	.	.	.	.	.	.	.	22	38112565	38112565	G	C	exonic	PLA2G6	.	synonymous SNV	PLA2G6:NM_001004426:exon15:c.G2053G:p.D685D,PLA2G6:NM_001199562:exon15:c.G2053G:p.D685D,PLA2G6:NM_003560:exon16:c.G2215G:p.D739D	22q13.1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
1908	22	38115658	C	T	Pathogenic	PLA2G6	.	.	.	.	.	.	.	.	.	.	22	38115658	38115658	C	T	exonic	PLA2G6	.	synonymous SNV	PLA2G6:NM_001004426:exon13:c.C1741A:p.R581R,PLA2G6:NM_001199562:exon13:c.C1741A:p.R581R,PLA2G6:NM_003560:exon14:c.C1903A:p.R635R	22q13.1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
1909	22	38129523	G	A	Pathogenic/Likely pathogenic	PLA2G6	.	.	.	.	.	.	.	.	.	.	22	38129523	38129523	G	A	exonic	PLA2G6	.	stopgain	PLA2G6:NM_001004426:exon8:c.G1117T:p.G373X,PLA2G6:NM_001199562:exon8:c.G1117T:p.G373X,PLA2G6:NM_003560:exon8:c.G1117T:p.G373X	22q13.1	.	.	.	.	.	.	.	.	0.000	D	1	A	.	.	.	.	.	.	.	13.088	41	0.993	0.988	D	.	.	.	.	0.707	0	5.34	0.871	0.935	0.996	0.988	19.390	Deleterious (FATHMM)
1910	22	38169318	C	T	Pathogenic	PLA2G6	.	.	.	.	.	.	.	.	.	.	22	38169318	38169318	C	T	exonic	PLA2G6	.	synonymous SNV	PLA2G6:NM_001004426:exon2:c.C109A:p.R37R,PLA2G6:NM_001199562:exon2:c.C109A:p.R37R,PLA2G6:NM_003560:exon2:c.C109A:p.R37R	22q13.1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
1911	22	40350018	T	C	Pathogenic	ADSL	.	.	.	.	.	.	.	.	.	.	22	40350018	40350018	T	C	exonic	ADSL	.	nonsynonymous SNV	ADSL:NM_000026:exon2:c.T340C:p.Y114H,ADSL:NM_001123378:exon2:c.T340C:p.Y114H	22q13.1	7.7e-05	rs374259530	0.0	D	1.0	D	0.998	D	0.000	D	1	D	3.635	H	-5.73	D	-4.4	D	0.91	6.135	28.4	0.998	0.986	D	1.024	D	0.986	D	0.707	0	5.59	0.991	1.061	0.998	0.998	15.854	Deleterious
1912	22	40364965	G	A	Pathogenic	ADSL	.	.	.	.	.	.	.	.	.	.	22	40364965	40364965	G	A	exonic	ADSL	.	nonsynonymous SNV	ADSL:NM_000026:exon12:c.G1277A:p.R426H	22q13.1	.	rs119450941	.	.	0.696	P	0.344	B	0.000	D	1	A	3.685	H	.	.	.	.	0.936	5.899	27.5	0.999	0.993	D	1.042	D	0.909	D	0.722	0	5.67	0.917	1.048	0.969	0.988	19.776	Deleterious
1913	22	42061052	G	A	Pathogenic	NAGA	.	.	.	.	.	.	.	.	.	.	22	42061052	42061052	G	A	exonic	NAGA	.	stopgain	NAGA:NM_000262:exon8:c.G973T:p.E325X	22q13.2	.	.	.	.	.	.	.	.	0.000	D	1	A	.	.	.	.	.	.	.	13.717	43	0.995	0.964	D	.	.	.	.	0.707	0	5.68	0.871	0.834	0.935	0.390	17.971	Deleterious (FATHMM)
1914	22	50625392	C	T	Pathogenic	ARSA	.	.	.	.	.	.	.	.	.	.	22	50625392	50625392	C	T	exonic	ARSA	.	nonsynonymous SNV	ARSA:NM_000487:exon8:c.C1283A:p.P428Q,ARSA:NM_001085428:exon8:c.C1025A:p.P342Q,ARSA:NM_001085425:exon9:c.C1283A:p.P428Q,ARSA:NM_001085426:exon9:c.C1283A:p.P428Q,ARSA:NM_001085427:exon9:c.C1283A:p.P428Q	22q13.33	.	.	0.0	D	1.0	D	1.0	D	0.000	D	1	D	2.27	M	-4.33	D	-6.96	D	0.863	6.607	32	0.994	0.993	D	1.087	D	0.942	D	0.745	0	5.57	0.917	0.998	0.874	0.890	17.048	Deleterious
1915	22	50626250	G	A	Pathogenic/Likely pathogenic, not provided	ARSA	.	.	.	.	.	.	.	.	.	.	22	50626250	50626250	G	A	exonic	ARSA	.	nonsynonymous SNV	ARSA:NM_000487:exon5:c.G883T:p.G295C,ARSA:NM_001085428:exon5:c.G625T:p.G209C,ARSA:NM_001085425:exon6:c.G883T:p.G295C,ARSA:NM_001085426:exon6:c.G883T:p.G295C,ARSA:NM_001085427:exon6:c.G883T:p.G295C	22q13.33	.	.	0.0	D	1.0	D	1.0	D	0.000	D	1	D	3.32	M	-4.01	D	-8.76	D	0.985	7.789	35	0.998	0.977	D	1.099	D	0.951	D	0.758	0	5.21	0.871	0.852	0.858	0.856	16.265	Deleterious
1916	22	50626676	G	C	Pathogenic	ARSA	.	.	.	.	.	.	.	.	.	.	22	50626676	50626676	G	C	exonic	ARSA	.	synonymous SNV	ARSA:NM_000487:exon4:c.G769G:p.D257D,ARSA:NM_001085428:exon4:c.G511G:p.D171D,ARSA:NM_001085425:exon5:c.G769G:p.D257D,ARSA:NM_001085426:exon5:c.G769G:p.D257D,ARSA:NM_001085427:exon5:c.G769G:p.D257D	22q13.33	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
1917	22	50626682	G	A	Pathogenic/Likely pathogenic	ARSA	.	.	.	.	.	.	.	.	.	.	22	50626682	50626682	G	A	exonic	ARSA	.	stopgain	ARSA:NM_000487:exon4:c.G763T:p.E255X,ARSA:NM_001085428:exon4:c.G505T:p.E169X,ARSA:NM_001085425:exon5:c.G763T:p.E255X,ARSA:NM_001085426:exon5:c.G763T:p.E255X,ARSA:NM_001085427:exon5:c.G763T:p.E255X	22q13.33	.	.	.	.	.	.	.	.	0.000	D	1	A	.	.	.	.	.	.	.	11.934	38	0.998	0.982	D	.	.	.	.	0.706	0	5.25	0.871	0.935	1.000	1.000	16.340	Deleterious (FATHMM)
1918	22	50627165	G	A	Pathogenic	ARSA	.	.	.	.	.	.	.	.	.	.	22	50627165	50627165	G	A	splicing	ARSA	NM_001085425:exon3:c.465+1C>T,NM_000487:exon2:c.465+1C>T,NM_001085428:exon2:c.207+1C>T,NM_001085427:exon3:c.465+1C>T,NM_001085426:exon3:c.465+1C>T	.	.	22q13.33	.	.	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	4.140	23.8	0.993	0.985	D	.	.	.	.	0.209	1	4.74	0.871	0.922	0.929	0.620	15.574	Deleterious (FATHMM)
1919	X	18584312	C	A	Pathogenic	CDKL5	.	.	.	.	.	.	.	.	.	.	X	18584312	18584312	C	A	exonic	CDKL5	.	stopgain	CDKL5:NM_003159:exon8:c.C513A:p.Y171X,CDKL5:NM_001037343:exon9:c.C513A:p.Y171X	Xp22.13	.	rs267608490	.	.	.	.	.	.	0.000	D	1	A	.	.	.	.	.	.	.	9.801	36	0.997	0.849	D	.	.	.	.	.	.	0.476	-0.845	-0.293	0.991	0.995	9.52	Deleterious (FATHMM)
1920	X	18584332	G	A	Pathogenic/Likely pathogenic	CDKL5	.	.	.	.	.	.	.	.	.	.	X	18584332	18584332	G	A	exonic	CDKL5	.	nonsynonymous SNV	CDKL5:NM_003159:exon8:c.G533A:p.R178Q,CDKL5:NM_001037343:exon9:c.G533A:p.R178Q	Xp22.13	.	rs267606715	0.0	D	1.0	D	0.998	D	0.000	D	1	D	2.995	M	0.71	T	-4.0	D	0.956	7.256	34	1.000	0.987	D	-0.132	T	0.382	T	.	.	5.6	0.917	0.998	0.991	0.836	18.642	Tolerated
1921	X	18604599	C	T	Pathogenic	CDKL5	.	.	.	.	.	.	.	.	.	.	X	18604599	18604599	C	T	exonic	CDKL5	.	stopgain	CDKL5:NM_003159:exon12:c.C1675T:p.R559X,CDKL5:NM_001037343:exon13:c.C1675T:p.R559X	Xp22.13	.	rs267608395	.	.	.	.	.	.	0.000	D	1	A	.	.	.	.	.	.	.	11.369	37	0.998	0.952	D	.	.	.	.	.	.	3.15	0.871	0.935	0.995	0.995	8.787	Deleterious (FATHMM)
1922	X	18628470	C	T	Pathogenic	CDKL5	.	.	.	.	.	.	.	.	.	.	X	18628470	18628470	C	T	exonic	CDKL5	.	stopgain	CDKL5:NM_003159:exon18:c.C2596T:p.Q866X,CDKL5:NM_001037343:exon19:c.C2596T:p.Q866X	Xp22.13	.	rs587783158	.	.	.	.	.	.	0.000	D	1	A	.	.	.	.	.	.	.	14.171	45	0.998	0.972	D	.	.	.	.	.	.	5.66	0.871	0.935	0.999	1.000	18.722	Deleterious (FATHMM)
1923	X	21880921	G	A	Pathogenic	MBTPS2	.	.	.	.	.	.	.	.	.	.	X	21880921	21880921	G	A	exonic	MBTPS2	.	nonsynonymous SNV	MBTPS2:NM_015884:exon10:c.G1286A:p.R429H	Xp22.12	.	rs122468178	0.0	D	1.0	D	0.995	D	0.000	D	1	A	2.885	M	-4.27	D	-3.97	D	0.977	7.285	34	0.999	0.989	D	1.085	D	0.952	D	.	.	5.3	0.917	1.048	1.000	1.000	16.634	Deleterious
1924	X	22219070	G	A	Pathogenic/Likely pathogenic	PHEX|PTCHD1-AS	.	.	.	.	.	.	.	.	.	.	X	22219070	22219070	G	A	exonic	PHEX	.	nonsynonymous SNV	PHEX:NM_000444:exon17:c.G1735A:p.G579R,PHEX:NM_001282754:exon17:c.G1735A:p.G579R	Xp22.11	.	.	0.0	D	1.0	D	1.0	D	0.000	D	1	D	4.22	H	-2.33	D	-7.62	D	0.997	7.297	34	0.999	0.988	D	1.039	D	0.888	D	.	.	5.86	0.917	1.048	0.981	0.986	19.145	Deleterious
1925	X	31178721	C	T	Pathogenic	DMD	.	.	.	.	.	.	.	.	.	.	X	31178721	31178721	C	T	exonic	DMD	.	synonymous SNV	DMD:NM_004015:exon9:c.C967A:p.R323R,DMD:NM_004016:exon9:c.C967A:p.R323R,DMD:NM_004017:exon9:c.C967A:p.R323R,DMD:NM_004018:exon9:c.C967A:p.R323R,DMD:NM_004019:exon9:c.C967A:p.R323R,DMD:NM_004014:exon16:c.C1984A:p.R662R,DMD:NM_004013:exon27:c.C2791A:p.R931R,DMD:NM_004020:exon27:c.C2791A:p.R931R,DMD:NM_004021:exon27:c.C2791A:p.R931R,DMD:NM_004022:exon27:c.C2791A:p.R931R,DMD:NM_004023:exon27:c.C2791A:p.R931R,DMD:NM_004011:exon42:c.C6148A:p.R2050R,DMD:NM_004012:exon42:c.C6139A:p.R2047R,DMD:NM_000109:exon70:c.C10147A:p.R3383R,DMD:NM_004006:exon70:c.C10171A:p.R3391R,DMD:NM_004009:exon70:c.C10159A:p.R3387R,DMD:NM_004010:exon70:c.C9802A:p.R3268R	Xp21.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
1926	X	31178784	C	T	Pathogenic	DMD	.	.	.	.	.	.	.	.	.	.	X	31178784	31178784	C	T	exonic	DMD	.	synonymous SNV	DMD:NM_004015:exon9:c.C904A:p.R302R,DMD:NM_004016:exon9:c.C904A:p.R302R,DMD:NM_004017:exon9:c.C904A:p.R302R,DMD:NM_004018:exon9:c.C904A:p.R302R,DMD:NM_004019:exon9:c.C904A:p.R302R,DMD:NM_004014:exon16:c.C1921A:p.R641R,DMD:NM_004013:exon27:c.C2728A:p.R910R,DMD:NM_004020:exon27:c.C2728A:p.R910R,DMD:NM_004021:exon27:c.C2728A:p.R910R,DMD:NM_004022:exon27:c.C2728A:p.R910R,DMD:NM_004023:exon27:c.C2728A:p.R910R,DMD:NM_004011:exon42:c.C6085A:p.R2029R,DMD:NM_004012:exon42:c.C6076A:p.R2026R,DMD:NM_000109:exon70:c.C10084A:p.R3362R,DMD:NM_004006:exon70:c.C10108A:p.R3370R,DMD:NM_004009:exon70:c.C10096A:p.R3366R,DMD:NM_004010:exon70:c.C9739A:p.R3247R	Xp21.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
1927	X	31206663	C	T	Pathogenic	DMD	.	.	.	.	.	.	.	.	.	.	X	31206663	31206663	C	T	exonic	DMD	.	synonymous SNV	DMD:NM_004015:exon5:c.C364A:p.R122R,DMD:NM_004016:exon5:c.C364A:p.R122R,DMD:NM_004017:exon5:c.C364A:p.R122R,DMD:NM_004018:exon5:c.C364A:p.R122R,DMD:NM_004019:exon5:c.C364A:p.R122R,DMD:NM_004014:exon12:c.C1381A:p.R461R,DMD:NM_004013:exon23:c.C2188A:p.R730R,DMD:NM_004020:exon23:c.C2188A:p.R730R,DMD:NM_004021:exon23:c.C2188A:p.R730R,DMD:NM_004022:exon23:c.C2188A:p.R730R,DMD:NM_004023:exon23:c.C2188A:p.R730R,DMD:NM_004011:exon38:c.C5545A:p.R1849R,DMD:NM_004012:exon38:c.C5536A:p.R1846R,DMD:NM_000109:exon66:c.C9544A:p.R3182R,DMD:NM_004006:exon66:c.C9568A:p.R3190R,DMD:NM_004009:exon66:c.C9556A:p.R3186R,DMD:NM_004010:exon66:c.C9199A:p.R3067R	Xp21.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
1928	X	31223071	C	T	Pathogenic	DMD	.	.	.	.	.	.	.	.	.	.	X	31223071	31223071	C	T	exonic	DMD	.	synonymous SNV	DMD:NM_004015:exon3:c.C133A:p.R45R,DMD:NM_004016:exon3:c.C133A:p.R45R,DMD:NM_004017:exon3:c.C133A:p.R45R,DMD:NM_004018:exon3:c.C133A:p.R45R,DMD:NM_004019:exon3:c.C133A:p.R45R,DMD:NM_004014:exon10:c.C1150A:p.R384R,DMD:NM_004013:exon21:c.C1957A:p.R653R,DMD:NM_004020:exon21:c.C1957A:p.R653R,DMD:NM_004021:exon21:c.C1957A:p.R653R,DMD:NM_004022:exon21:c.C1957A:p.R653R,DMD:NM_004023:exon21:c.C1957A:p.R653R,DMD:NM_004011:exon36:c.C5314A:p.R1772R,DMD:NM_004012:exon36:c.C5305A:p.R1769R,DMD:NM_000109:exon64:c.C9313A:p.R3105R,DMD:NM_004006:exon64:c.C9337A:p.R3113R,DMD:NM_004009:exon64:c.C9325A:p.R3109R,DMD:NM_004010:exon64:c.C8968A:p.R2990R	Xp21.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
1929	X	31478330	C	T	Pathogenic	DMD	.	.	.	.	.	.	.	.	.	.	X	31478330	31478330	C	T	exonic	DMD	.	synonymous SNV	DMD:NM_004014:exon5:c.C526A:p.R176R,DMD:NM_004013:exon16:c.C1333A:p.R445R,DMD:NM_004020:exon16:c.C1333A:p.R445R,DMD:NM_004021:exon16:c.C1333A:p.R445R,DMD:NM_004022:exon16:c.C1333A:p.R445R,DMD:NM_004023:exon16:c.C1333A:p.R445R,DMD:NM_004011:exon31:c.C4690A:p.R1564R,DMD:NM_004012:exon31:c.C4681A:p.R1561R,DMD:NM_000109:exon59:c.C8689A:p.R2897R,DMD:NM_004006:exon59:c.C8713A:p.R2905R,DMD:NM_004009:exon59:c.C8701A:p.R2901R,DMD:NM_004010:exon59:c.C8344A:p.R2782R	Xp21.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
1930	X	31479043	C	T	Pathogenic	DMD	.	.	.	.	.	.	.	.	.	.	X	31479043	31479043	C	T	exonic	DMD	.	synonymous SNV	DMD:NM_004014:exon4:c.C421A:p.R141R,DMD:NM_004013:exon15:c.C1228A:p.R410R,DMD:NM_004020:exon15:c.C1228A:p.R410R,DMD:NM_004021:exon15:c.C1228A:p.R410R,DMD:NM_004022:exon15:c.C1228A:p.R410R,DMD:NM_004023:exon15:c.C1228A:p.R410R,DMD:NM_004011:exon30:c.C4585A:p.R1529R,DMD:NM_004012:exon30:c.C4576A:p.R1526R,DMD:NM_000109:exon58:c.C8584A:p.R2862R,DMD:NM_004006:exon58:c.C8608A:p.R2870R,DMD:NM_004009:exon58:c.C8596A:p.R2866R,DMD:NM_004010:exon58:c.C8239A:p.R2747R	Xp21.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
1931	X	31627852	C	T	Pathogenic	DMD	.	.	.	.	.	.	.	.	.	.	X	31627852	31627852	C	T	exonic	DMD	.	synonymous SNV	DMD:NM_004013:exon12:c.C658A:p.R220R,DMD:NM_004020:exon12:c.C658A:p.R220R,DMD:NM_004021:exon12:c.C658A:p.R220R,DMD:NM_004022:exon12:c.C658A:p.R220R,DMD:NM_004023:exon12:c.C658A:p.R220R,DMD:NM_004011:exon27:c.C4015A:p.R1339R,DMD:NM_004012:exon27:c.C4006A:p.R1336R,DMD:NM_000109:exon55:c.C8014A:p.R2672R,DMD:NM_004006:exon55:c.C8038A:p.R2680R,DMD:NM_004009:exon55:c.C8026A:p.R2676R,DMD:NM_004010:exon55:c.C7669A:p.R2557R	Xp21.1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
1932	X	32216981	C	T	Pathogenic	DMD	.	.	.	.	.	.	.	.	.	.	X	32216981	32216981	C	T	exonic	DMD	.	nonsynonymous SNV	DMD:NM_004011:exon16:c.C2350A:p.Q784K,DMD:NM_004012:exon16:c.C2341A:p.Q781K,DMD:NM_000109:exon44:c.C6349A:p.Q2117K,DMD:NM_004006:exon44:c.C6373A:p.Q2125K,DMD:NM_004009:exon44:c.C6361A:p.Q2121K,DMD:NM_004010:exon44:c.C6004A:p.Q2002K	Xp21.1	.	.	0.573	T	0.07	B	0.023	B	0.068	U	0.997	N	1.15	L	0.81	T	-0.36	N	0.176	1.082	11.12	0.780	0.867	D	-1.044	T	0.099	T	.	.	5.62	0.917	0.998	1.000	1.000	13.186	Tolerated
1933	X	32362826	C	T	Pathogenic	DMD	.	.	.	.	.	.	.	.	.	.	X	32362826	32362826	C	T	exonic	DMD	.	synonymous SNV	DMD:NM_004011:exon9:c.C1264A:p.R422R,DMD:NM_004012:exon9:c.C1255A:p.R419R,DMD:NM_000109:exon37:c.C5263A:p.R1755R,DMD:NM_004006:exon37:c.C5287A:p.R1763R,DMD:NM_004009:exon37:c.C5275A:p.R1759R,DMD:NM_004010:exon37:c.C4918A:p.R1640R	Xp21.1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
1934	X	32365175	C	T	Pathogenic	DMD	.	.	.	.	.	.	.	.	.	.	X	32365175	32365175	C	T	exonic	DMD	.	nonsynonymous SNV	DMD:NM_004011:exon7:c.C847A:p.Q283K,DMD:NM_004012:exon7:c.C838A:p.Q280K,DMD:NM_000109:exon35:c.C4846A:p.Q1616K,DMD:NM_004006:exon35:c.C4870A:p.Q1624K,DMD:NM_004009:exon35:c.C4858A:p.Q1620K,DMD:NM_004010:exon35:c.C4501A:p.Q1501K	Xp21.1	.	.	0.453	T	0.047	B	0.037	B	0.138	U	0.986	N	0	N	1.43	T	0.18	N	0.298	2.447	19.13	0.973	0.984	D	-1.066	T	0.071	T	.	.	4.84	-0.045	1.048	0.853	1.000	14.666	Tolerated
1935	X	32380626	C	T	Pathogenic	DMD	.	.	.	.	.	.	.	.	.	.	X	32380626	32380626	C	T	exonic	DMD	.	synonymous SNV	DMD:NM_004011:exon6:c.C706A:p.R236R,DMD:NM_004012:exon6:c.C697A:p.R233R,DMD:NM_000109:exon34:c.C4705A:p.R1569R,DMD:NM_004006:exon34:c.C4729A:p.R1577R,DMD:NM_004009:exon34:c.C4717A:p.R1573R,DMD:NM_004010:exon34:c.C4360A:p.R1454R	Xp21.1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
1936	X	32438372	C	T	Pathogenic	DMD	.	.	.	.	.	.	.	.	.	.	X	32438372	32438372	C	T	exonic	DMD	.	synonymous SNV	DMD:NM_000109:exon29:c.C3916A:p.R1306R,DMD:NM_004006:exon29:c.C3940A:p.R1314R,DMD:NM_004009:exon29:c.C3928A:p.R1310R,DMD:NM_004010:exon29:c.C3571A:p.R1191R	Xp21.1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
1937	X	32463438	G	A	Pathogenic	DMD	.	.	.	.	.	.	.	.	.	.	X	32463438	32463438	G	A	splicing	DMD	NM_000109:exon25:c.3408+1C>T,NM_004009:exon25:c.3420+1C>T,NM_004006:exon25:c.3432+1C>T,NM_004010:exon25:c.3063+1C>T	.	.	Xp21.1	.	.	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	4.642	24.5	0.993	0.987	D	.	.	.	.	.	.	5.43	0.871	0.935	0.846	0.565	18.384	Deleterious (FATHMM)
1938	X	32468509	C	T	Pathogenic	DMD	.	.	.	.	.	.	.	.	.	.	X	32468509	32468509	C	T	exonic	DMD	.	synonymous SNV	DMD:NM_000109:exon23:c.C3127A:p.R1043R,DMD:NM_004006:exon23:c.C3151A:p.R1051R,DMD:NM_004009:exon23:c.C3139A:p.R1047R,DMD:NM_004010:exon23:c.C2782A:p.R928R	Xp21.1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
1939	X	32484925	C	T	Pathogenic	DMD	.	.	.	.	.	.	.	.	.	.	X	32484925	32484925	C	T	exonic	DMD	.	nonsynonymous SNV	DMD:NM_000109:exon21:c.C2773A:p.Q925K,DMD:NM_004006:exon21:c.C2797A:p.Q933K,DMD:NM_004009:exon21:c.C2785A:p.Q929K,DMD:NM_004010:exon21:c.C2428A:p.Q810K	Xp21.1	.	rs756949497	0.304	T	0.963	D	0.959	D	0.003	U	0.761	D	0.975	L	1.28	T	-1.21	N	0.57	3.685	23.3	0.991	0.968	D	-1.008	T	0.147	T	.	.	5.24	0.917	0.998	1.000	1.000	17.953	Tolerated
1940	X	32573834	C	T	Pathogenic	DMD	.	.	.	.	.	.	.	.	.	.	X	32573834	32573834	C	T	exonic	DMD	.	synonymous SNV	DMD:NM_000109:exon14:c.C1591A:p.R531R,DMD:NM_004006:exon14:c.C1615A:p.R539R,DMD:NM_004009:exon14:c.C1603A:p.R535R,DMD:NM_004010:exon14:c.C1246A:p.R416R	Xp21.1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
1941	X	32809559	C	T	Pathogenic	DMD	.	.	.	.	.	.	.	.	.	.	X	32809559	32809559	C	T	exonic	DMD	.	synonymous SNV	DMD:NM_000109:exon7:c.C559A:p.R187R,DMD:NM_004006:exon7:c.C583A:p.R195R,DMD:NM_004009:exon7:c.C571A:p.R191R,DMD:NM_004010:exon7:c.C214A:p.R72R	Xp21.1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
1942	X	32816565	C	T	Pathogenic	DMD	.	.	.	.	.	.	.	.	.	.	X	32816565	32816565	C	T	exonic	DMD	.	synonymous SNV	DMD:NM_000109:exon6:c.C409A:p.R137R,DMD:NM_004006:exon6:c.C433A:p.R145R,DMD:NM_004009:exon6:c.C421A:p.R141R,DMD:NM_004010:exon6:c.C64A:p.R22R	Xp21.1	.	rs128626235	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
1943	X	33211281	G	T	Pathogenic	DMD	.	.	.	.	.	.	.	.	.	.	X	33211281	33211281	G	T	splicing	DMD	NM_004006:exon1:c.31+1C>A	.	.	Xp21.1	.	.	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	4.891	24.9	0.992	0.958	D	.	.	.	.	.	.	5.98	0.871	0.935	1.000	1.000	18.145	Deleterious (FATHMM)
1944	X	33211304	G	A	Pathogenic	DMD	.	.	.	.	.	.	.	.	.	.	X	33211304	33211304	G	A	exonic	DMD	.	nonsynonymous SNV	DMD:NM_004006:exon1:c.G9T:p.W3C	Xp21.1	.	.	0.0	D	0.698	P	0.27	B	0.004	U	1	D	0.69	N	0.28	T	0.25	N	0.88	6.248	28.9	0.984	0.966	D	-0.572	T	0.236	T	.	.	5.98	0.871	0.935	1.000	1.000	18.145	Tolerated
1945	X	41542805	C	T	Pathogenic	CASK	.	.	.	.	.	.	.	.	.	.	X	41542805	41542805	C	T	exonic	CASK	.	synonymous SNV	CASK:NM_001126055:exon20:c.C1954A:p.R652R,CASK:NM_001126054:exon21:c.C1972A:p.R658R,CASK:NM_003688:exon22:c.C2041A:p.R681R	Xp11.4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
1946	X	43949981	C	T	Pathogenic	NDP	.	.	.	.	.	.	.	.	.	.	X	43949981	43949981	C	T	exonic	NDP	.	nonsynonymous SNV	NDP:NM_000266:exon3:c.C220A:p.R74S	Xp11.3	.	.	0.0	D	0.997	D	0.993	D	0.000	D	1	D	0.805	L	-5.38	D	-1.95	N	0.849	2.636	20.4	0.990	0.978	D	1.148	D	0.955	D	.	.	5.96	0.917	1.036	0.992	0.986	19.357	Deleterious
1947	X	53382645	G	A	Pathogenic/Likely pathogenic	SMC1A	.	.	.	.	.	.	.	.	.	.	X	53382645	53382645	G	A	exonic	SMC1A	.	nonsynonymous SNV	SMC1A:NM_006306:exon21:c.G3146T:p.R1049L,SMC1A:NM_001281463:exon22:c.G3080T:p.R1027L	Xp11.22	.	.	0.002	D	1.0	D	1.0	D	0.000	D	1	D	3.125	M	-1.18	T	-6.56	D	0.741	7.198	34	0.998	0.966	D	0.458	D	0.659	D	.	.	4.17	-0.001	0.935	0.967	0.998	11.976	Deleterious
1948	X	69616310	T	C	Pathogenic	EDA	.	.	.	.	.	.	.	.	.	.	X	69616310	69616310	T	C	exonic	EDA	.	nonsynonymous SNV	EDA:NM_001005609:exon1:c.T2C:p.M1T,EDA:NM_001005610:exon1:c.T2C:p.M1T,EDA:NM_001005612:exon1:c.T2C:p.M1T,EDA:NM_001005613:exon1:c.T2C:p.M1T,EDA:NM_001399:exon1:c.T2C:p.M1T	Xq13.1	.	rs397516659	0.0	D	0.978	D	0.806	P	0.001	D	1	D	.	.	-3.62	D	0.18	N	0.916	2.424	18.98	0.968	0.763	D	0.992	D	0.920	D	.	.	4.56	0.991	1.058	1.000	1.000	5.851	Deleterious
1949	X	69957093	C	T	Pathogenic	EDA	.	.	.	.	.	.	.	.	.	.	X	69957093	69957093	C	T	exonic	EDA	.	nonsynonymous SNV	EDA:NM_001005609:exon2:c.C463T:p.R155C,EDA:NM_001005612:exon2:c.C463T:p.R155C,EDA:NM_001399:exon2:c.C463T:p.R155C	Xq13.1	.	rs132630312	0.001	D	0.014	B	0.003	B	0.542	N	0.944	A	0.55	N	-0.64	T	-1.35	N	0.727	5.229	25.6	0.995	0.631	D	-0.140	T	0.549	D	.	.	3.2	0.871	0.935	0.997	0.995	6.746	Deleterious
1950	X	69957097	G	A	Pathogenic	EDA	.	.	.	.	.	.	.	.	.	.	X	69957097	69957097	G	A	exonic	EDA	.	nonsynonymous SNV	EDA:NM_001005609:exon2:c.G467A:p.R156H,EDA:NM_001005612:exon2:c.G467A:p.R156H,EDA:NM_001399:exon2:c.G467A:p.R156H	Xq13.1	.	rs132630314	0.011	D	0.999	D	0.936	D	0.006	N	0.960	D	0.895	L	-0.56	T	-0.5	N	0.761	4.195	23.9	0.997	0.903	D	0.601	D	0.755	D	.	.	4.97	0.917	1.048	0.998	1.000	12.463	Deleterious
1951	X	70029527	C	T	Pathogenic	EDA	.	.	.	.	.	.	.	.	.	.	X	70029527	70029527	C	T	exonic	EDA	.	stopgain	EDA:NM_001005609:exon5:c.C730T:p.R244X,EDA:NM_001005612:exon5:c.C730T:p.R244X,EDA:NM_001399:exon5:c.C730T:p.R244X	Xq13.1	.	rs397516672	.	.	.	.	.	.	0.000	D	1	A	.	.	.	.	.	.	.	12.038	38	0.995	0.900	D	.	.	.	.	.	.	1.57	0.598	0.935	0.997	0.998	13.214	Deleterious (FATHMM)
1952	X	70033475	G	A	Pathogenic	EDA	.	.	.	.	.	.	.	.	.	.	X	70033475	70033475	G	A	exonic	EDA	.	nonsynonymous SNV	EDA:NM_001005609:exon7:c.G871A:p.G291R,EDA:NM_001005612:exon7:c.G862A:p.G288R,EDA:NM_001399:exon7:c.G871A:p.G291R	Xq13.1	.	rs397516677	0.006	D	1.0	D	1.0	D	0.000	D	1.000	D	1.955	M	-6.42	D	-3.7	D	0.948	6.997	33	0.999	0.928	D	1.044	D	0.985	D	.	.	5.48	0.917	1.048	1.000	0.997	17.227	Deleterious
1953	X	71108336	C	T	Pathogenic	IL2RG	.	.	.	.	.	.	.	.	.	.	X	71108336	71108336	C	T	exonic	IL2RG	.	synonymous SNV	IL2RG:NM_000206:exon7:c.C865A:p.R289R	Xq13.1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
1954	X	71110295	T	C	Pathogenic/Likely pathogenic	IL2RG	.	.	.	.	.	.	.	.	.	.	X	71110295	71110295	T	C	exonic	IL2RG	.	nonsynonymous SNV	IL2RG:NM_000206:exon4:c.T455G:p.V152G	Xq13.1	.	.	0.002	D	1.0	D	0.999	D	0.000	N	1	D	2.175	M	-4.19	D	-5.84	D	0.924	5.025	25.2	0.997	0.920	D	1.036	D	0.920	D	.	.	5.34	1.062	1.199	1.000	1.000	12.085	Deleterious
1955	X	71223249	C	T	Pathogenic	GJB1	.	.	.	.	.	.	.	.	.	.	X	71223249	71223249	C	T	UTR5	GJB1	NM_000166:c.-459C>T	.	.	Xq13.1	.	rs863224971	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.
1956	X	71223750	C	T	Pathogenic	GJB1	.	.	.	.	.	.	.	.	.	.	X	71223750	71223750	C	T	exonic	GJB1	.	nonsynonymous SNV	GJB1:NM_000166:exon2:c.C43T:p.R15W,GJB1:NM_001097642:exon2:c.C43T:p.R15W	Xq13.1	.	rs116840815	0.0	D	1.0	D	0.995	D	0.000	D	1.000	A	2.34	M	-5.49	D	-5.46	D	0.839	6.550	31	0.999	0.845	D	1.096	D	0.970	D	.	.	4.36	0.868	0.847	0.999	1.000	15.939	Deleterious
1957	X	71223751	G	A	Pathogenic	GJB1	.	.	.	.	.	.	.	.	.	.	X	71223751	71223751	G	A	exonic	GJB1	.	nonsynonymous SNV	GJB1:NM_000166:exon2:c.G44A:p.R15Q,GJB1:NM_001097642:exon2:c.G44A:p.R15Q	Xq13.1	.	rs863224974	0.062	T	0.995	D	0.936	D	0.000	D	1.000	D	0.925	L	-5.37	D	-1.57	N	0.784	4.752	24.7	0.999	0.826	D	1.109	D	0.948	D	.	.	4.36	0.913	0.947	1.000	1.000	15.939	Deleterious
1958	X	71223990	G	A	Pathogenic	GJB1	.	.	.	.	.	.	.	.	.	.	X	71223990	71223990	G	A	exonic	GJB1	.	nonsynonymous SNV	GJB1:NM_000166:exon2:c.G283A:p.V95M,GJB1:NM_001097642:exon2:c.G283A:p.V95M	Xq13.1	.	rs104894821	0.0	D	1.0	D	0.997	D	0.000	D	1	A	3.065	M	-5.61	D	-2.96	D	0.942	4.949	25.0	0.999	0.954	D	1.050	D	0.982	D	.	.	4.67	0.913	0.947	1.000	1.000	16.960	Deleterious
1959	X	71224012	A	G	Pathogenic	GJB1	.	.	.	.	.	.	.	.	.	.	X	71224012	71224012	A	G	exonic	GJB1	.	nonsynonymous SNV	GJB1:NM_000166:exon2:c.A305G:p.E102G,GJB1:NM_001097642:exon2:c.A305G:p.E102G	Xq13.1	.	rs779696968	0.003	D	0.959	D	0.635	P	0.000	D	1.000	D	2.225	M	-5.55	D	-4.9	D	0.781	3.748	23.3	0.998	0.950	D	1.066	D	0.950	D	.	.	4.67	1.058	1.081	0.998	1.000	13.454	Deleterious
1960	X	71224197	C	T	Pathogenic	GJB1	.	.	.	.	.	.	.	.	.	.	X	71224197	71224197	C	T	exonic	GJB1	.	nonsynonymous SNV	GJB1:NM_000166:exon2:c.C490T:p.R164W,GJB1:NM_001097642:exon2:c.C490T:p.R164W	Xq13.1	9.5e-05	rs139643362	0.154	T	0.986	D	0.581	P	0.000	D	1	D	2.305	M	-3.81	D	-5.78	D	0.987	5.738	26.9	0.998	0.935	D	0.821	D	0.849	D	.	.	3.91	0.868	0.850	1.000	0.998	13.728	Deleterious
1961	X	71224254	C	T	Pathogenic	GJB1	.	.	.	.	.	.	.	.	.	.	X	71224254	71224254	C	T	exonic	GJB1	.	nonsynonymous SNV	GJB1:NM_000166:exon2:c.C547T:p.R183C,GJB1:NM_001097642:exon2:c.C547T:p.R183C	Xq13.1	.	rs863224471	0.0	D	1.0	D	1.0	D	0.000	D	1	D	3.265	M	-4.4	D	-7.31	D	0.992	6.316	29.2	0.999	0.863	D	1.105	D	0.958	D	.	.	4.99	0.868	0.934	0.998	0.993	17.503	Deleterious
1962	X	71224365	C	T	Pathogenic	GJB1	.	.	.	.	.	.	.	.	.	.	X	71224365	71224365	C	T	exonic	GJB1	.	stopgain	GJB1:NM_000166:exon2:c.C658T:p.R220X,GJB1:NM_001097642:exon2:c.C658T:p.R220X	Xq13.1	.	rs104894814	.	.	.	.	.	.	0.038	N	1	A	.	.	.	.	.	.	.	9.855	36	0.994	0.743	D	.	.	.	.	.	.	1.96	0.868	0.043	0.994	0.987	12.810	Deleterious (FATHMM)
1963	X	72495216	C	T	Pathogenic	HDAC8	.	.	.	.	.	.	.	.	.	.	X	72495216	72495216	C	T	exonic	HDAC8	.	synonymous SNV	HDAC8:NM_001166418:exon3:c.C217A:p.R73R,HDAC8:NM_001166448:exon3:c.C217A:p.R73R,HDAC8:NM_001166419:exon5:c.C490A:p.R164R,HDAC8:NM_018486:exon5:c.C490A:p.R164R	Xq13.1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
1964	X	74525834	C	T	Pathogenic/Likely pathogenic	SLC16A2	.	.	.	.	.	.	.	.	.	.	X	74525834	74525834	C	T	exonic	SLC16A2	.	nonsynonymous SNV	SLC16A2:NM_006517:exon4:c.C1111T:p.R371C	Xq13.2	.	rs587784384	.	.	0.988	D	0.746	P	0.000	D	1	D	2.675	M	0.3	T	.	.	0.994	7.292	34	0.999	0.966	D	-0.166	T	0.356	T	.	.	4.94	0.871	0.935	0.987	0.996	17.480	Tolerated
1965	X	77684520	C	T	Pathogenic	ATRX	.	.	.	.	.	.	.	.	.	.	X	77684520	77684520	C	T	exonic	ATRX	.	nonsynonymous SNV	ATRX:NM_138270:exon8:c.C622A:p.R208S,ATRX:NM_000489:exon9:c.C736A:p.R246S	Xq21.1	.	.	0.0	D	1.0	D	0.999	D	0.000	D	1.000	D	2.545	M	-5.17	D	-3.34	D	0.924	5.883	27.4	0.988	0.986	D	1.105	D	0.970	D	.	.	5.52	0.917	0.953	0.994	0.990	18.446	Deleterious
1966	X	77988722	C	T	Pathogenic	ATP7A	.	.	.	.	.	.	.	.	.	.	X	77988722	77988722	C	T	exonic	ATP7A	.	stopgain	ATP7A:NM_000052:exon3:c.C601T:p.R201X,ATP7A:NM_001282224:exon3:c.C601T:p.R201X	Xq21.1	.	rs151340633	.	.	.	.	.	.	0.000	D	1	A	.	.	.	.	.	.	.	10.316	36	0.997	0.895	D	.	.	.	.	.	.	3.26	0.871	-0.008	0.999	0.999	13.319	Deleterious (FATHMM)
1967	X	101397981	G	A	Pathogenic	GLA|RPL36A-HNRNPH2	.	.	.	.	.	.	.	.	.	.	X	101397981	101397981	G	A	exonic	GLA	.	nonsynonymous SNV	GLA:NM_000169:exon7:c.G1118T:p.G373V	Xq22.1	.	.	0.001	D	0.998	D	0.79	P	0.000	D	1	D	.	.	-6.29	D	-3.81	D	0.629	4.808	24.8	0.993	0.852	D	1.048	D	0.979	D	.	.	5.05	0.871	0.935	0.480	0.899	14.25	Deleterious
1968	X	101398075	C	T	Pathogenic	GLA|RPL36A-HNRNPH2	.	.	.	.	.	.	.	.	.	.	X	101398075	101398075	C	T	exonic	GLA	.	synonymous SNV	GLA:NM_000169:exon7:c.C1024A:p.R342R	Xq22.1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
1969	X	101398395	G	A	Pathogenic	GLA|RPL36A-HNRNPH2	.	.	.	.	.	.	.	.	.	.	X	101398395	101398395	G	A	exonic	GLA	.	nonsynonymous SNV	GLA:NM_000169:exon6:c.G974T:p.G325V	Xq22.1	.	.	0.0	D	1.0	D	1.0	D	0.000	D	1	D	.	.	-9.04	D	-8.79	D	0.975	6.814	32	0.998	0.979	D	0.859	D	0.998	D	.	.	5.76	0.871	0.935	1.000	1.000	18.976	Deleterious
1970	X	101398467	G	A	Pathogenic	GLA|RPL36A-HNRNPH2	.	.	.	.	.	.	.	.	.	.	X	101398467	101398467	G	A	exonic	GLA	.	nonsynonymous SNV	GLA:NM_000169:exon6:c.G902T:p.R301L	Xq22.1	9.5e-05	rs104894828	0.005	D	1.0	D	0.987	D	0.000	D	1.000	D	.	.	-6.56	D	-6.7	D	0.977	7.347	34	0.999	0.950	D	1.012	D	0.988	D	.	.	5.05	0.871	0.935	0.973	0.992	14.322	Deleterious
1971	X	101398468	C	T	Pathogenic	GLA|RPL36A-HNRNPH2	.	.	.	.	.	.	.	.	.	.	X	101398468	101398468	C	T	exonic	GLA	.	synonymous SNV	GLA:NM_000169:exon6:c.C901A:p.R301R	Xq22.1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
1972	X	101398522	C	T	Pathogenic	GLA|RPL36A-HNRNPH2	.	.	.	.	.	.	.	.	.	.	X	101398522	101398522	C	T	exonic	GLA	.	nonsynonymous SNV	GLA:NM_000169:exon6:c.C847A:p.Q283K	Xq22.1	.	.	0.0	D	1.0	D	0.997	D	0.000	D	1	D	.	.	-6.53	D	-3.81	D	0.902	6.046	28.0	0.996	0.974	D	1.014	D	0.989	D	.	.	5.71	0.917	1.048	0.999	0.999	18.870	Deleterious
1973	X	101398873	G	A	Pathogenic	GLA|RPL36A-HNRNPH2	.	.	.	.	.	.	.	.	.	.	X	101398873	101398873	G	A	exonic	GLA	.	nonsynonymous SNV	GLA:NM_000169:exon5:c.G713T:p.S238I	Xq22.1	.	.	0.0	D	1.0	D	1.0	D	0.000	D	1.000	D	.	.	-8.42	D	-5.85	D	0.97	6.338	29.3	0.996	0.872	D	0.850	D	0.997	D	.	.	5.11	0.871	0.935	0.981	0.979	15.719	Deleterious
1974	X	101398906	G	A	Pathogenic	GLA|RPL36A-HNRNPH2	.	.	.	.	.	.	.	.	.	.	X	101398906	101398906	G	A	exonic	GLA	.	nonsynonymous SNV	GLA:NM_000169:exon5:c.G680T:p.R227L	Xq22.1	.	.	0.0	D	1.0	D	1.0	D	0.000	D	1	D	.	.	-10.24	D	-6.91	D	0.995	7.410	34	0.999	0.951	D	0.894	D	0.999	D	.	.	5.67	0.871	0.935	0.984	0.999	19.024	Deleterious
1975	X	101398907	C	T	Pathogenic	GLA|RPL36A-HNRNPH2	.	.	.	.	.	.	.	.	.	.	X	101398907	101398907	C	T	exonic	GLA	.	synonymous SNV	GLA:NM_000169:exon5:c.C679A:p.R227R	Xq22.1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
1976	X	101398942	A	G	Pathogenic	GLA|RPL36A-HNRNPH2	.	.	.	.	.	.	.	.	.	.	X	101398942	101398942	A	G	exonic	GLA	.	nonsynonymous SNV	GLA:NM_000169:exon5:c.A644C:p.N215T	Xq22.1	.	.	0.002	D	0.634	P	0.103	B	0.000	D	1.000	D	.	.	-7.53	D	-5.37	D	0.539	5.676	26.7	0.990	0.957	D	1.078	D	0.979	D	.	.	5.97	0.991	1.058	0.973	0.999	15.388	Deleterious
1977	X	101400692	C	A	Pathogenic/Likely pathogenic	GLA|RPL36A-HNRNPH2	.	.	.	.	.	.	.	.	.	.	X	101400692	101400692	C	A	exonic	GLA	.	nonsynonymous SNV	GLA:NM_000169:exon4:c.C613T:p.P205S	Xq22.1	.	.	0.0	D	1.0	D	1.0	D	0.000	D	1	D	.	.	-8.42	D	-7.9	D	0.766	6.137	28.4	0.999	0.987	D	0.854	D	0.997	D	.	.	5.26	0.917	1.045	0.997	0.993	18.015	Deleterious
1978	X	101401710	C	T	Pathogenic	GLA|RPL36A-HNRNPH2	.	.	.	.	.	.	.	.	.	.	X	101401710	101401710	C	T	exonic	GLA	.	nonsynonymous SNV	GLA:NM_000169:exon3:c.C469A:p.Q157K	Xq22.1	.	.	0.299	T	0.001	B	0.002	B	0.000	N	0.940	N	.	.	-7.97	D	-1.71	N	0.187	0.692	8.773	0.848	0.282	N	1.098	D	0.977	D	.	.	-4.97	-0.033	0.049	0.997	0.992	15.544	Deleterious
1979	X	101401752	G	C	Pathogenic/Likely pathogenic	GLA|RPL36A-HNRNPH2	.	.	.	.	.	.	.	.	.	.	X	101401752	101401752	G	C	exonic	GLA	.	synonymous SNV	GLA:NM_000169:exon3:c.G427G:p.A143A	Xq22.1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
1980	X	101403938	G	A	Pathogenic	GLA|RPL36A-HNRNPH2	.	.	.	.	.	.	.	.	.	.	X	101403938	101403938	G	A	exonic	GLA	.	nonsynonymous SNV	GLA:NM_000169:exon2:c.G242T:p.W81L	Xq22.1	.	.	0.008	D	1.0	D	0.997	D	0.000	D	1	D	.	.	-7.93	D	-6.82	D	0.89	6.947	33	0.988	0.990	D	0.950	D	0.995	D	.	.	5.65	0.871	0.931	0.999	1.000	18.778	Deleterious
1981	X	108598793	G	A	Pathogenic	COL4A5	.	.	.	.	.	.	.	.	.	.	X	108598793	108598793	G	A	exonic	COL4A5	.	nonsynonymous SNV	COL4A5:NM_000495:exon25:c.G1871A:p.G624D	Xq22.3	9.5e-05	rs104886142	0.119	T	0.999	D	0.98	D	0.000	D	1	A	3.36	M	-4.85	D	-4.83	D	0.958	2.962	22.1	0.994	0.991	D	1.076	D	0.971	D	.	.	5.07	0.917	0.112	0.796	0.894	16.270	Deleterious
1982	X	111331036	C	T	Pathogenic	DCX	.	.	.	.	.	.	.	.	.	.	X	111331036	111331036	C	T	exonic	DCX	.	synonymous SNV	DCX:NM_000555:exon5:c.C1057A:p.R353R,DCX:NM_001195553:exon5:c.C814A:p.R272R,DCX:NM_178151:exon5:c.C814A:p.R272R,DCX:NM_178152:exon5:c.C814A:p.R272R,DCX:NM_178153:exon5:c.C814A:p.R272R	Xq23	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
1983	X	111333078	C	T	Pathogenic	DCX	.	.	.	.	.	.	.	.	.	.	X	111333078	111333078	C	T	exonic	DCX	.	nonsynonymous SNV	DCX:NM_000555:exon4:c.C1024A:p.Q342K,DCX:NM_001195553:exon4:c.C781A:p.Q261K,DCX:NM_178151:exon4:c.C781A:p.Q261K,DCX:NM_178152:exon4:c.C781A:p.Q261K,DCX:NM_178153:exon4:c.C781A:p.Q261K	Xq23	.	.	0.032	D	0.882	P	0.521	P	0.000	D	1.000	D	2.125	M	-3.11	D	-2.56	D	0.617	4.454	24.2	0.995	0.986	D	0.599	D	0.777	D	.	.	5.44	0.917	1.048	0.998	0.999	18.336	Deleterious
1984	X	111685040	A	G	Pathogenic	ALG13	.	.	.	.	.	.	.	.	.	.	X	111685040	111685040	A	G	exonic	ALG13	.	nonsynonymous SNV	ALG13:NM_001099922:exon3:c.A320G:p.N107S,ALG13:NM_001168385:exon3:c.A320G:p.N107S,ALG13:NM_001257230:exon3:c.A8G:p.N3S,ALG13:NM_001257231:exon3:c.A86G:p.N29S,ALG13:NM_001257234:exon3:c.A8G:p.N3S,ALG13:NM_001257235:exon3:c.A8G:p.N3S,ALG13:NM_001257237:exon3:c.A8G:p.N3S,ALG13:NM_001257239:exon3:c.A8G:p.N3S,ALG13:NM_001257240:exon3:c.A8G:p.N3S,ALG13:NM_001257241:exon3:c.A86G:p.N29S,ALG13:NM_018466:exon3:c.A320G:p.N107S	Xq23	.	rs398122394	0.0	D	0.994	D	0.858	P	.	.	1.000	N	.	.	0.31	T	-1.59	N	0.187	4.440	24.2	0.998	0.936	D	-0.494	T	0.497	T	.	.	2.13	1.062	1.194	1.000	1.000	6.4	Tolerated
1985	X	120442599	G	A	Pathogenic	LAMP2	.	.	.	.	.	.	.	.	.	.	X	120442599	120442599	G	A	exonic	LAMP2	.	nonsynonymous SNV	LAMP2:NM_001122606:exon7:c.G928T:p.V310F,LAMP2:NM_002294:exon7:c.G928T:p.V310F,LAMP2:NM_013995:exon7:c.G928T:p.V310F	Xq24	.	.	0.043	D	0.98	D	0.886	P	0.550	N	0.949	D	2.28	M	1.36	T	-2.34	N	0.479	4.005	23.6	0.996	0.980	D	-0.599	T	0.222	T	.	.	5.17	0.871	0.935	0.990	0.921	16.156	Tolerated
1986	X	120442650	C	T	Pathogenic	LAMP2	.	.	.	.	.	.	.	.	.	.	X	120442650	120442650	C	T	exonic	LAMP2	.	synonymous SNV	LAMP2:NM_001122606:exon7:c.C877A:p.R293R,LAMP2:NM_002294:exon7:c.C877A:p.R293R,LAMP2:NM_013995:exon7:c.C877A:p.R293R	Xq24	.	rs727503118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
1987	X	120446304	G	T	Pathogenic	LAMP2	.	.	.	.	.	.	.	.	.	.	X	120446304	120446304	G	T	splicing	LAMP2	NM_001122606:exon6:c.864+1C>A,NM_002294:exon6:c.864+1C>A,NM_013995:exon6:c.864+1C>A	.	.	Xq24	.	rs727503119	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	5.272	25.7	0.995	0.982	D	.	.	.	.	.	.	5.53	0.871	0.935	0.980	0.998	15.486	Deleterious (FATHMM)
1988	X	120446374	C	A	Pathogenic/Likely pathogenic	LAMP2	.	.	.	.	.	.	.	.	.	.	X	120446374	120446374	C	A	exonic	LAMP2	.	synonymous SNV	LAMP2:NM_001122606:exon6:c.C795T:p.C265C,LAMP2:NM_002294:exon6:c.C795T:p.C265C,LAMP2:NM_013995:exon6:c.C795T:p.C265C	Xq24	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
1989	X	120455461	G	A	Pathogenic	LAMP2	.	.	.	.	.	.	.	.	.	.	X	120455461	120455461	G	A	exonic	LAMP2	.	nonsynonymous SNV	LAMP2:NM_001122606:exon3:c.G293T:p.W98L,LAMP2:NM_002294:exon3:c.G293T:p.W98L,LAMP2:NM_013995:exon3:c.G293T:p.W98L	Xq24	.	.	0.547	T	1.0	D	0.999	D	0.000	D	1	D	2.2	M	1.58	T	-4.09	D	0.866	4.542	24.3	0.983	0.931	D	-0.877	T	0.157	T	.	.	5.44	0.871	0.931	0.297	0.161	15.581	Tolerated
1990	X	133699902	C	T	Pathogenic	GPC3	.	.	.	.	.	.	.	.	.	.	X	133699902	133699902	C	T	exonic	GPC3	.	synonymous SNV	GPC3:NM_001164619:exon3:c.C997A:p.R333R,GPC3:NM_001164618:exon4:c.C1111A:p.R371R,GPC3:NM_004484:exon4:c.C1159A:p.R387R,GPC3:NM_001164617:exon5:c.C1228A:p.R410R	Xq26.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
1991	X	149482996	G	A	Pathogenic	IDS	.	.	.	.	.	.	.	.	.	.	X	149482996	149482996	G	A	exonic	IDS	.	nonsynonymous SNV	IDS:NM_000202:exon9:c.G1403T:p.R468L,IDS:NM_001166550:exon9:c.G1133T:p.R378L	Xq28	.	rs113993946	0.0	D	1.0	D	0.999	D	0.000	D	1	D	2.705	M	-6.04	D	-6.72	D	0.955	6.880	33	0.998	0.979	D	0.981	D	0.991	D	.	.	5.37	0.871	0.892	0.997	0.996	18.240	Deleterious
1992	X	149482997	C	T	Pathogenic	IDS	.	.	.	.	.	.	.	.	.	.	X	149482997	149482997	C	T	exonic	IDS	.	synonymous SNV	IDS:NM_000202:exon9:c.C1402A:p.R468R,IDS:NM_001166550:exon9:c.C1132A:p.R378R	Xq28	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
1993	X	149490322	C	T	Pathogenic	IDS	.	.	.	.	.	.	.	.	.	.	X	149490322	149490322	C	T	exonic	IDS	.	stopgain	IDS:NM_000202:exon7:c.C998A:p.S333X,IDS:NM_001166550:exon7:c.C728A:p.S243X,IDS:NM_006123:exon7:c.C998A:p.S333X	Xq28	.	.	.	.	.	.	.	.	0.001	N	1	A	.	.	.	.	.	.	.	12.121	38	0.994	0.985	D	.	.	.	.	.	.	4.85	0.866	1.048	0.320	0.119	17.275	Deleterious (FATHMM)
1994	X	149503477	G	A	Pathogenic	IDS	.	.	.	.	.	.	.	.	.	.	X	149503477	149503477	G	A	exonic	IDS	.	nonsynonymous SNV	IDS:NM_000202:exon3:c.G253T:p.A85S,IDS:NM_006123:exon3:c.G253T:p.A85S	Xq28	.	.	0.339	T	0.996	D	0.934	D	0.000	D	1	D	0.87	L	-3.82	D	-1.85	N	0.8	6.653	32	0.997	0.928	D	1.051	D	0.925	D	.	.	4.43	0.871	0.014	0.960	0.732	16.556	Deleterious
1995	X	150598687	G	A	Pathogenic	MTM1	.	.	.	.	.	.	.	.	.	.	X	150598687	150598687	G	A	splicing	MTM1	NM_000252:exon4:c.231+1G>A	.	.	Xq28	.	rs587783810	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	4.853	24.8	0.995	0.944	D	.	.	.	.	.	.	5.5	0.866	1.048	1.000	1.000	17.123	Deleterious (FATHMM)
1996	X	150645725	C	T	Pathogenic	MTM1	.	.	.	.	.	.	.	.	.	.	X	150645725	150645725	C	T	exonic	MTM1	.	nonsynonymous SNV	MTM1:NM_000252:exon9:c.C721T:p.R241C	Xq28	.	rs132630305	0.0	D	1.0	D	1.0	D	0.000	D	1	A	4.67	H	-4.78	D	-7.83	D	0.995	8.099	35	0.999	0.984	D	1.010	D	0.984	D	.	.	5.93	0.824	0.935	0.999	0.999	19.293	Deleterious
1997	X	150659654	A	G	Pathogenic	MTM1	.	.	.	.	.	.	.	.	.	.	X	150659654	150659654	A	G	intronic	MTM1	.	.	.	Xq28	.	rs397518445	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	probably Tolerated (Intron)
1998	X	150659664	C	T	Pathogenic	MTM1	.	.	.	.	.	.	.	.	.	.	X	150659664	150659664	C	T	exonic	MTM1	.	stopgain	MTM1:NM_000252:exon12:c.C1261T:p.R421X	Xq28	.	rs587783771	.	.	.	.	.	.	0.000	D	1	A	.	.	.	.	.	.	.	12.468	39	0.996	0.847	D	.	.	.	.	.	.	4.25	0.005	0.163	0.997	1.000	11.823	Deleterious (FATHMM)
1999	X	153725687	G	A	Pathogenic	ABCD1	.	.	.	.	.	.	.	.	.	.	X	153725687	153725687	G	A	exonic	ABCD1	.	nonsynonymous SNV	ABCD1:NM_000033:exon1:c.G421A:p.A141T	Xq28	.	rs193922097	0.001	D	1.0	D	0.998	D	0.000	N	1	A	3.03	M	-6.55	D	-3.6	D	0.819	5.898	27.5	0.999	0.948	D	1.027	D	0.988	D	.	.	4.57	0.917	1.038	0.997	0.998	12.232	Deleterious
2000	X	153932410	C	T	Pathogenic/Likely pathogenic	NAA10	.	.	.	.	.	.	.	.	.	.	X	153932410	153932410	C	T	exonic	NAA10	.	nonsynonymous SNV	NAA10:NM_001256119:exon5:c.C247A:p.R83S,NAA10:NM_001256120:exon5:c.C229A:p.R77S,NAA10:NM_003491:exon5:c.C247A:p.R83S	Xq28	.	.	0.001	D	0.976	D	0.865	P	0.000	D	1	D	2.79	M	0.38	T	-5.36	D	0.951	5.500	26.2	0.997	0.937	D	-0.280	T	0.323	T	.	.	4.14	-0.045	0.953	0.984	0.999	12.884	Tolerated
2001	X	153964702	C	T	Pathogenic	HCFC1	.	.	.	.	.	.	.	.	.	.	X	153964702	153964702	C	T	exonic	HCFC1	.	nonsynonymous SNV	HCFC1:NM_005334:exon2:c.C218A:p.A73D	Xq28	.	.	0.009	D	0.991	D	0.938	D	0.000	D	1	D	1.1	L	3.98	T	-4.18	D	0.857	6.266	29.0	0.997	0.965	D	-1.124	T	0.028	T	.	.	5.46	0.917	0.998	0.995	0.994	16.995	Tolerated
2002	X	154030911	G	A	Pathogenic	MECP2	.	.	.	.	.	.	.	.	.	.	X	154030911	154030911	G	A	exonic	MECP2	.	nonsynonymous SNV	MECP2:NM_001110792:exon3:c.G953T:p.R318L,MECP2:NM_004992:exon4:c.G917T:p.R306L,MECP2:NM_001316337:exon5:c.G638T:p.R213L	Xq28	.	rs61751443	0.0	D	0.998	D	0.972	D	0.000	D	1	D	0.805	L	-3.3	D	-2.06	N	0.864	6.489	30	0.998	0.952	D	0.792	D	0.804	D	.	.	5.06	0.871	0.837	1.000	1.000	16.204	Deleterious
2003	X	154030912	C	T	Pathogenic	MECP2	.	.	.	.	.	.	.	.	.	.	X	154030912	154030912	C	T	exonic	MECP2	.	nonsynonymous SNV	MECP2:NM_001110792:exon3:c.C952A:p.R318S,MECP2:NM_004992:exon4:c.C916A:p.R306S,MECP2:NM_001316337:exon5:c.C637A:p.R213S	Xq28	.	.	0.0	D	0.998	D	0.972	D	0.000	D	1	D	0.805	L	-3.29	D	-0.98	N	0.903	6.054	28.1	0.998	0.983	D	0.678	D	0.798	D	.	.	5.06	0.917	0.937	1.000	1.000	16.204	Deleterious
2004	X	154030948	C	T	Pathogenic/Likely pathogenic, risk factor	MECP2	.	.	.	.	.	.	.	.	.	.	X	154030948	154030948	C	T	exonic	MECP2	.	synonymous SNV	MECP2:NM_001110792:exon3:c.C916A:p.R306R,MECP2:NM_004992:exon4:c.C880A:p.R294R,MECP2:NM_001316337:exon5:c.C601A:p.R201R	Xq28	.	.	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	0.105	3.663	0.568	0.641	D	.	.	.	.	.	.	3.11	-0.045	0.937	0.987	0.993	11.422	Deleterious (FATHMM)
2005	X	154031020	C	T	Pathogenic	MECP2	.	.	.	.	.	.	.	.	.	.	X	154031020	154031020	C	T	exonic	MECP2	.	synonymous SNV	MECP2:NM_001110792:exon3:c.C844A:p.R282R,MECP2:NM_004992:exon4:c.C808A:p.R270R,MECP2:NM_001316337:exon5:c.C529A:p.R177R	Xq28	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
2006	X	154031065	C	T	Pathogenic	MECP2	.	.	.	.	.	.	.	.	.	.	X	154031065	154031065	C	T	exonic	MECP2	.	synonymous SNV	MECP2:NM_001110792:exon3:c.C799A:p.R267R,MECP2:NM_004992:exon4:c.C763A:p.R255R,MECP2:NM_001316337:exon5:c.C484A:p.R162R	Xq28	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
2007	X	154031098	C	T	Pathogenic	MECP2	.	.	.	.	.	.	.	.	.	.	X	154031098	154031098	C	T	exonic	MECP2	.	nonsynonymous SNV	MECP2:NM_001110792:exon3:c.C766A:p.Q256K,MECP2:NM_004992:exon4:c.C730A:p.Q244K,MECP2:NM_001316337:exon5:c.C451A:p.Q151K	Xq28	.	.	0.017	D	0.892	P	0.546	P	0.000	D	1	D	0.46	N	-2.51	D	-0.12	N	0.742	2.347	18.48	0.974	0.978	D	0.186	D	0.564	D	.	.	5.48	0.917	0.937	0.988	0.953	17.030	Deleterious
2008	X	154031326	C	T	Pathogenic	MECP2	.	.	.	.	.	.	.	.	.	.	X	154031326	154031326	C	T	exonic	MECP2	.	synonymous SNV	MECP2:NM_001110792:exon3:c.C538A:p.R180R,MECP2:NM_004992:exon4:c.C502A:p.R168R,MECP2:NM_001316337:exon5:c.C223A:p.R75R	Xq28	.	rs61748421	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	0.282	5.522	0.569	0.910	D	.	.	.	.	.	.	4.59	-0.020	0.006	0.996	0.998	11.396	Deleterious (FATHMM)
2009	X	154031355	C	T	Pathogenic	MECP2	.	.	.	.	.	.	.	.	.	.	X	154031355	154031355	C	T	exonic	MECP2	.	nonsynonymous SNV	MECP2:NM_001110792:exon3:c.C509A:p.T170K,MECP2:NM_004992:exon4:c.C473A:p.T158K,MECP2:NM_001316337:exon5:c.C194A:p.T65K	Xq28	.	.	0.009	D	1.0	D	0.998	D	0.000	D	1	D	0.84	L	-5.81	D	-4.27	D	0.884	6.007	27.9	0.994	0.992	D	1.141	D	0.961	D	.	.	5.48	0.917	0.937	1.000	1.000	17.030	Deleterious
2010	X	154031373	C	G	Pathogenic	MECP2	.	.	.	.	.	.	.	.	.	.	X	154031373	154031373	C	G	exonic	MECP2	.	synonymous SNV	MECP2:NM_001110792:exon3:c.C491C:p.P164P,MECP2:NM_004992:exon4:c.C455C:p.P152P,MECP2:NM_001316337:exon5:c.C176C:p.P59P	Xq28	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
2011	X	154031427	C	G	Pathogenic	MECP2	.	.	.	.	.	.	.	.	.	.	X	154031427	154031427	C	G	exonic	MECP2	.	synonymous SNV	MECP2:NM_001110792:exon3:c.C437C:p.S146S,MECP2:NM_004992:exon4:c.C401C:p.S134S,MECP2:NM_001316337:exon5:c.C122C:p.S41S	Xq28	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
2012	X	154031431	C	T	Pathogenic	MECP2	.	.	.	.	.	.	.	.	.	.	X	154031431	154031431	C	T	exonic	MECP2	.	nonsynonymous SNV	MECP2:NM_001110792:exon3:c.C433A:p.R145S,MECP2:NM_004992:exon4:c.C397A:p.R133S,MECP2:NM_001316337:exon5:c.C118A:p.R40S	Xq28	.	.	0.0	D	1.0	D	0.999	D	0.000	D	1	D	3.07	M	-4.77	D	-6.0	D	0.979	6.265	29.0	0.998	0.991	D	1.097	D	0.969	D	.	.	5.24	0.917	0.949	1.000	1.000	16.577	Deleterious
2013	X	154032268	C	T	Pathogenic	MECP2	.	.	.	.	.	.	.	.	.	.	X	154032268	154032268	C	T	exonic	MECP2	.	synonymous SNV	MECP2:NM_001110792:exon2:c.C352A:p.R118R,MECP2:NM_004992:exon3:c.C316A:p.R106R,MECP2:NM_001316337:exon4:c.C37A:p.R13R	Xq28	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
2014	X	154532269	G	T	Pathogenic, other	G6PD	.	.	.	.	.	.	.	.	.	.	X	154532269	154532269	G	T	exonic	G6PD	.	nonsynonymous SNV	G6PD:NM_000402:exon12:c.G1466A:p.R489H,G6PD:NM_001042351:exon12:c.G1376A:p.R459H	Xq28	.	rs72554665	0.063	T	0.041	B	0.014	B	0.000	D	1	D	1.53	L	-6.89	D	-1.46	N	0.824	5.732	26.9	0.992	0.896	D	1.152	D	0.963	D	.	.	5.57	0.868	0.931	0.994	0.918	13.883	Deleterious
2015	X	154532390	C	T	Pathogenic	G6PD	.	.	.	.	.	.	.	.	.	.	X	154532390	154532390	C	T	exonic	G6PD	.	nonsynonymous SNV	G6PD:NM_000402:exon11:c.C1450A:p.R484S,G6PD:NM_001042351:exon11:c.C1360A:p.R454S	Xq28	.	.	0.001	D	1.0	D	0.992	D	0.000	D	1	D	2.63	M	-7.23	D	-5.17	D	0.912	6.597	31	0.998	0.952	D	0.991	D	0.992	D	.	.	4.83	0.913	1.043	0.964	0.995	9.719	Deleterious
2016	X	154533122	G	A	Pathogenic, other	G6PD	.	.	.	.	.	.	.	.	.	.	X	154533122	154533122	G	A	exonic	G6PD	.	nonsynonymous SNV	G6PD:NM_000402:exon9:c.G961T:p.V321L,G6PD:NM_001042351:exon9:c.G871T:p.V291L	Xq28	.	.	0.054	T	0.993	D	0.879	P	0.000	D	1	D	2.295	M	-5.19	D	-2.61	D	0.896	6.021	27.9	0.997	0.984	D	1.100	D	0.960	D	.	.	5.69	0.871	0.921	0.990	0.997	16.029	Deleterious
2017	X	154533596	G	C	Pathogenic, other	G6PD	.	.	.	.	.	.	.	.	.	.	X	154533596	154533596	G	C	exonic	G6PD	.	synonymous SNV	G6PD:NM_000402:exon8:c.G934G:p.D312D,G6PD:NM_001042351:exon8:c.G844G:p.D282D	Xq28	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
2018	X	154534345	G	T	Pathogenic, other	G6PD	.	.	.	.	.	.	.	.	.	.	X	154534345	154534345	G	T	exonic	G6PD	.	nonsynonymous SNV	G6PD:NM_000402:exon6:c.G727A:p.V243M,G6PD:NM_001042351:exon6:c.G637A:p.V213M	Xq28	.	.	0.038	D	0.664	P	0.242	B	0.000	D	1.000	D	1.905	M	-7.13	D	-1.5	N	0.798	5.692	26.8	0.998	0.858	D	1.049	D	0.970	D	.	.	4.61	0.871	0.932	1.000	1.000	6.891	Deleterious
2019	X	154534419	C	T	Pathogenic/Likely pathogenic, other	G6PD	.	.	.	.	.	.	.	.	.	.	X	154534419	154534419	C	T	exonic	G6PD	.	nonsynonymous SNV	G6PD:NM_000402:exon6:c.C653A:p.S218Y,G6PD:NM_001042351:exon6:c.C563A:p.S188Y	Xq28	.	.	0.004	D	0.706	P	0.536	P	0.000	D	1	D	2.32	M	-4.87	D	-4.1	D	0.628	5.628	26.6	0.993	0.947	D	1.080	D	0.937	D	.	.	5.65	0.917	1.045	0.987	0.941	15.929	Deleterious
2020	MT	8993	T	G	Pathogenic	MT-ATP6	.	.	.	.	.	.	.	.	.	.	MT	8993	8993	T	G	intergenic	NONE,NONE	dist=NONE;dist=NONE	.	.	.	.	rs199476133	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.
1172	12	112454636	A	T	Pathogenic/Likely pathogenic	PTPN11	.	.	.	.	.	.	.	.	.	.	12	112454636	112454636	A	T	exonic	PTPN11	.	nonsynonymous SNV	PTPN11:NM_002834:exon5:c.A598T:p.N200Y,PTPN11:NM_080601:exon5:c.A598T:p.N200Y	12q24.13	.	rs727503381	0.08	T	0.843	P	0.805	P	0.000	D	1	D	2.75	M	-1.11	T	-4.61	D	0.813	4.828	24.8	0.985	0.989	D	-0.085	T	0.440	T	0.707	0	5.65	1.062	1.119	0.998	1.000	15.868	Tolerated
1173	12	112472954	A	G	Pathogenic/Likely pathogenic	PTPN11	.	.	.	.	.	.	.	.	.	.	12	112472954	112472954	A	G	exonic	PTPN11	.	nonsynonymous SNV	PTPN11:NM_002834:exon7:c.A767G:p.Q256R,PTPN11:NM_080601:exon7:c.A767G:p.Q256R	12q24.13	.	rs397507523	0.086	T	0.118	B	0.23	B	0.000	D	1	D	1.485	L	-5.58	D	-2.77	D	0.91	4.549	24.3	0.999	0.965	D	1.044	D	0.943	D	0.563	0	5.7	1.062	1.199	0.990	0.998	15.923	Deleterious
1174	12	112472961	G	T	Pathogenic/Likely pathogenic	PTPN11	.	.	.	.	.	.	.	.	.	.	12	112472961	112472961	G	T	exonic	PTPN11	.	nonsynonymous SNV	PTPN11:NM_002834:exon7:c.G774T:p.E258D,PTPN11:NM_080601:exon7:c.G774T:p.E258D	12q24.13	.	rs397516809	0.175	T	0.013	B	0.051	B	0.000	D	1.000	D	1.935	M	-5.62	D	-2.44	N	0.855	2.615	20.3	0.991	0.838	D	0.719	D	0.924	D	0.563	0	-0.476	-0.310	0.154	0.997	0.999	9.335	Deleterious
1175	12	112472968	C	T	Pathogenic/Likely pathogenic	PTPN11	.	.	.	.	.	.	.	.	.	.	12	112472968	112472968	C	T	exonic	PTPN11	.	nonsynonymous SNV	PTPN11:NM_002834:exon7:c.C781T:p.L261F,PTPN11:NM_080601:exon7:c.C781T:p.L261F	12q24.13	.	rs397507525	0.715	T	0.001	B	0.003	B	0.000	D	1	D	1.385	L	-5.69	D	-0.48	N	0.843	4.715	24.6	0.935	0.919	D	0.982	D	0.924	D	0.707	0	5.7	0.871	0.935	0.999	1.000	19.797	Deleterious
1176	12	112472989	G	T	Pathogenic/Likely pathogenic	PTPN11	.	.	.	.	.	.	.	.	.	.	12	112472989	112472989	G	T	exonic	PTPN11	.	nonsynonymous SNV	PTPN11:NM_002834:exon7:c.G802T:p.G268C,PTPN11:NM_080601:exon7:c.G802T:p.G268C	12q24.13	.	rs397507527	0.001	D	1.0	D	1.0	D	0.000	D	1	D	3.175	M	-5.68	D	-8.19	D	0.969	6.915	33	0.997	0.973	D	1.059	D	0.984	D	0.707	0	5.7	0.917	1.048	0.997	0.998	19.797	Deleterious
1177	12	112473023	A	G	Pathogenic	PTPN11	.	.	.	.	.	.	.	.	.	.	12	112473023	112473023	A	G	exonic	PTPN11	.	nonsynonymous SNV	PTPN11:NM_002834:exon7:c.A836G:p.Y279C,PTPN11:NM_080601:exon7:c.A836G:p.Y279C	12q24.13	.	rs121918456	0.0	D	0.939	P	0.827	P	0.000	D	1	A	3.625	H	-6.01	D	-7.75	D	0.986	4.526	24.3	0.997	0.957	D	1.023	D	0.985	D	0.563	0	5.7	1.062	1.199	1.000	1.000	15.243	Deleterious
1178	12	112473031	A	G	Pathogenic	PTPN11	.	.	.	.	.	.	.	.	.	.	12	112473031	112473031	A	G	exonic	PTPN11	.	nonsynonymous SNV	PTPN11:NM_002834:exon7:c.A844G:p.I282V,PTPN11:NM_080601:exon7:c.A844G:p.I282V	12q24.13	.	rs397507529	0.0	D	0.605	P	0.348	B	0.000	D	1	D	1.78	L	-1.71	D	-0.88	N	0.809	3.820	23.4	0.996	0.957	D	-0.043	T	0.509	D	0.563	0	5.7	1.062	1.199	0.999	1.000	15.243	Deleterious
1179	12	112473033	C	G	Pathogenic/Likely pathogenic	PTPN11	.	.	.	.	.	.	.	.	.	.	12	112473033	112473033	C	G	exonic	PTPN11	.	nonsynonymous SNV	PTPN11:NM_002834:exon7:c.C846G:p.I282M,PTPN11:NM_080601:exon7:c.C846G:p.I282M	12q24.13	.	rs397507530	0.0	D	0.999	D	0.989	D	0.000	D	1.000	D	3.805	H	-2.01	D	-2.63	D	0.87	3.238	22.8	0.994	0.776	D	0.403	D	0.771	D	0.563	0	1.34	0.033	-0.327	0.998	0.997	4.928	Deleterious
1180	12	112473040	T	C	Pathogenic	PTPN11	.	.	.	.	.	.	.	.	.	.	12	112473040	112473040	T	C	exonic	PTPN11	.	nonsynonymous SNV	PTPN11:NM_002834:exon7:c.T853C:p.F285L,PTPN11:NM_080601:exon7:c.T853C:p.F285L	12q24.13	.	rs397507531	0.031	D	0.837	P	0.688	P	0.000	D	1	D	1.665	L	-5.54	D	-5.07	D	0.926	4.754	24.7	0.998	0.942	D	1.094	D	0.951	D	0.563	0	5.7	0.991	1.061	1.000	0.999	15.243	Deleterious
1181	12	112477651	T	G	Pathogenic	PTPN11	.	.	.	.	.	.	.	.	.	.	12	112477651	112477651	T	G	exonic	PTPN11	.	nonsynonymous SNV	PTPN11:NM_002834:exon8:c.T854G:p.F285C,PTPN11:NM_080601:exon8:c.T854G:p.F285C	12q24.13	.	rs121918463	0.005	D	0.991	D	0.937	D	0.000	D	1	D	2.6	M	-5.69	D	-6.96	D	0.981	4.489	24.3	0.993	0.996	D	1.081	D	0.976	D	0.490	0	5.25	0.991	1.056	1.000	0.993	15.221	Deleterious
1182	12	112477651	T	C	Pathogenic	PTPN11	.	.	.	.	.	.	.	.	.	.	12	112477651	112477651	T	C	exonic	PTPN11	.	nonsynonymous SNV	PTPN11:NM_002834:exon8:c.T854C:p.F285S,PTPN11:NM_080601:exon8:c.T854C:p.F285S	12q24.13	.	rs121918463	0.001	D	1.0	D	0.999	D	0.000	D	1	A	3.035	M	-5.68	D	-7.0	D	0.974	4.629	24.5	0.999	0.989	D	1.064	D	0.981	D	0.490	0	5.25	0.991	1.056	1.000	0.993	15.221	Deleterious
1183	12	112477652	T	G	Pathogenic	PTPN11	.	.	.	.	.	.	.	.	.	.	12	112477652	112477652	T	G	exonic	PTPN11	.	nonsynonymous SNV	PTPN11:NM_002834:exon8:c.T855G:p.F285L,PTPN11:NM_080601:exon8:c.T855G:p.F285L	12q24.13	.	rs397516810	0.031	D	0.837	P	0.688	P	0.000	D	1.000	D	1.665	L	-5.54	D	-5.07	D	0.926	3.378	22.9	0.996	0.980	D	0.867	D	0.934	D	0.490	0	-1.33	0.991	0.144	1.000	0.995	9.984	Deleterious
1184	12	112477719	A	G	Pathogenic	PTPN11	.	.	.	.	.	.	.	.	.	.	12	112477719	112477719	A	G	exonic	PTPN11	.	nonsynonymous SNV	PTPN11:NM_002834:exon8:c.A922G:p.N308D,PTPN11:NM_080601:exon8:c.A922G:p.N308D	12q24.13	7.7e-05	rs28933386	0.016	D	0.346	B	0.311	B	0.000	D	1	A	3.82	H	-5.98	D	-4.38	D	0.534	3.027	22.3	0.996	0.998	D	1.167	D	0.977	D	0.490	0	4.5	1.062	1.193	1.000	0.999	11.338	Deleterious
1185	12	112477720	A	C	Pathogenic	PTPN11	.	.	.	.	.	.	.	.	.	.	12	112477720	112477720	A	C	exonic	PTPN11	.	nonsynonymous SNV	PTPN11:NM_002834:exon8:c.A923C:p.N308T,PTPN11:NM_080601:exon8:c.A923C:p.N308T	12q24.13	.	rs121918455	0.001	D	0.986	D	0.896	P	0.000	D	1	D	3.615	H	-5.93	D	-5.45	D	0.6	4.077	23.7	0.997	0.999	D	1.017	D	0.986	D	0.490	0	5.64	1.062	1.193	1.000	0.998	15.913	Deleterious
1186	12	112477720	A	G	Pathogenic	PTPN11	.	.	.	.	.	.	.	.	.	.	12	112477720	112477720	A	G	exonic	PTPN11	.	nonsynonymous SNV	PTPN11:NM_002834:exon8:c.A923G:p.N308S,PTPN11:NM_080601:exon8:c.A923G:p.N308S	12q24.13	.	rs121918455	0.099	T	0.342	B	0.114	B	0.000	D	1	A	1.725	L	-5.44	D	-4.58	D	0.285	2.615	20.3	0.998	0.999	D	1.112	D	0.919	D	0.490	0	5.64	1.062	1.193	1.000	0.998	15.913	Deleterious
1187	12	112488444	G	T	Pathogenic	PTPN11	.	.	.	.	.	.	.	.	.	.	12	112488444	112488444	G	T	exonic	PTPN11	.	nonsynonymous SNV	PTPN11:NM_002834:exon12:c.G1381T:p.A461S	12q24.13	.	rs121918468	0.016	D	0.981	D	0.993	D	0.000	D	1	D	3.56	H	-6.18	D	-2.87	D	0.847	6.429	29.7	0.998	0.998	D	0.984	D	0.990	D	0.707	0	5.05	0.917	0.953	0.966	0.972	18.770	Deleterious
1188	12	112488444	G	A	Pathogenic	PTPN11	.	.	.	.	.	.	.	.	.	.	12	112488444	112488444	G	A	exonic	PTPN11	.	nonsynonymous SNV	PTPN11:NM_002834:exon12:c.G1381A:p.A461T	12q24.13	.	rs121918468	0.001	D	1.0	D	0.999	D	0.000	D	1	A	3.45	M	-6.19	D	-3.83	D	0.901	6.971	33	0.999	0.997	D	0.994	D	0.990	D	0.707	0	5.05	0.917	0.953	0.966	0.972	18.770	Deleterious
1189	12	112488454	G	C	Pathogenic	PTPN11	.	.	.	.	.	.	.	.	.	.	12	112488454	112488454	G	C	exonic	PTPN11	.	nonsynonymous SNV	PTPN11:NM_002834:exon12:c.G1391C:p.G464A	12q24.13	.	rs121918469	0.0	D	1.0	D	1.0	D	0.000	D	1	A	4.86	H	-6.33	D	-5.75	D	0.982	6.350	29.4	0.998	0.999	D	0.906	D	0.994	D	0.563	0	5.05	0.917	0.953	1.000	1.000	18.770	Deleterious
1190	12	112488465	A	C	Pathogenic	PTPN11	.	.	.	.	.	.	.	.	.	.	12	112488465	112488465	A	C	exonic	PTPN11	.	nonsynonymous SNV	PTPN11:NM_002834:exon12:c.A1402C:p.T468P	12q24.13	.	rs397507537	0.001	D	1.0	D	0.998	D	0.000	D	1	D	4.585	H	-6.13	D	-5.58	D	0.986	6.186	28.6	0.997	0.998	D	0.931	D	0.993	D	0.707	0	5.05	1.062	1.088	0.984	0.983	15.091	Deleterious
1191	12	112488466	C	T	Pathogenic/Likely pathogenic, not provided	PTPN11	.	.	.	.	.	.	.	.	.	.	12	112488466	112488466	C	T	exonic	PTPN11	.	nonsynonymous SNV	PTPN11:NM_002834:exon12:c.C1403T:p.T468M	12q24.13	.	rs121918457	0.0	D	1.0	D	0.994	D	0.000	D	1	A	3.34	M	-6.11	D	-5.58	D	0.977	7.303	34	0.999	0.997	D	1.004	D	0.989	D	0.707	0	5.05	0.871	0.852	0.980	0.971	18.770	Deleterious
1192	12	112489047	C	T	Pathogenic	PTPN11	.	.	.	.	.	.	.	.	.	.	12	112489047	112489047	C	T	exonic	PTPN11	.	nonsynonymous SNV	PTPN11:NM_002834:exon13:c.C1471T:p.P491S	12q24.13	.	rs397507539	0.111	T	0.12	B	0.033	B	0.000	D	1	D	1.34	L	-1.69	D	-1.42	N	0.942	5.388	26.0	0.996	0.983	D	-0.387	T	0.433	T	0.722	0	5.13	0.871	0.935	1.000	0.997	18.936	Tolerated
1193	12	112489047	C	A	Pathogenic	PTPN11	.	.	.	.	.	.	.	.	.	.	12	112489047	112489047	C	A	exonic	PTPN11	.	nonsynonymous SNV	PTPN11:NM_002834:exon13:c.C1471A:p.P491T	12q24.13	.	rs397507539	0.045	D	0.61	P	0.266	B	0.000	D	1	D	2.235	M	-1.69	D	-2.09	N	0.98	5.237	25.6	0.998	0.987	D	-0.034	T	0.532	D	0.722	0	5.13	0.871	0.935	1.000	0.997	18.936	Deleterious
1194	12	112489048	C	T	Pathogenic	PTPN11	.	.	.	.	.	.	.	.	.	.	12	112489048	112489048	C	T	exonic	PTPN11	.	nonsynonymous SNV	PTPN11:NM_002834:exon13:c.C1472T:p.P491L	12q24.13	.	rs397507540	0.037	D	0.532	P	0.197	B	0.000	D	1	D	1.17	L	-1.54	D	-3.23	D	0.975	6.152	28.5	0.999	0.983	D	-0.473	T	0.363	T	0.722	0	5.13	0.871	0.935	1.000	0.997	18.936	Tolerated
1195	12	112489048	C	A	Pathogenic	PTPN11	.	.	.	.	.	.	.	.	.	.	12	112489048	112489048	C	A	exonic	PTPN11	.	nonsynonymous SNV	PTPN11:NM_002834:exon13:c.C1472A:p.P491H	12q24.13	.	rs397507540	0.057	T	0.971	D	0.835	P	0.000	D	1	D	2.235	M	-1.72	D	-1.58	N	0.95	5.747	27.0	0.989	0.987	D	0.188	D	0.659	D	0.722	0	5.13	0.871	0.935	1.000	0.997	18.936	Deleterious
1196	12	112489068	C	T	Pathogenic	PTPN11	.	.	.	.	.	.	.	.	.	.	12	112489068	112489068	C	T	exonic	PTPN11	.	nonsynonymous SNV	PTPN11:NM_002834:exon13:c.C1492T:p.R498W	12q24.13	.	rs397507541	0.0	D	0.999	D	0.963	D	0.000	D	1	D	4.855	H	-2.88	D	-7.62	D	0.994	6.429	29.7	0.999	0.918	D	1.032	D	0.929	D	0.722	0	4.11	-0.058	0.935	0.995	0.998	12.820	Deleterious
1197	12	112489069	G	T	Pathogenic	PTPN11	.	.	.	.	.	.	.	.	.	.	12	112489069	112489069	G	T	exonic	PTPN11	.	nonsynonymous SNV	PTPN11:NM_002834:exon13:c.G1493T:p.R498L	12q24.13	.	rs397507542	0.0	D	1.0	D	0.993	D	0.000	D	1	D	4.51	H	-2.86	D	-6.67	D	0.998	7.802	35	0.999	0.992	D	1.095	D	0.923	D	0.722	0	5.13	0.917	1.048	0.996	0.995	18.936	Deleterious
1198	12	112489078	G	A	Pathogenic	PTPN11	.	.	.	.	.	.	.	.	.	.	12	112489078	112489078	G	A	exonic	PTPN11	.	nonsynonymous SNV	PTPN11:NM_002834:exon13:c.G1502A:p.R501K	12q24.13	.	rs397507543	0.0	D	1.0	D	1.0	D	0.000	D	1	D	4.06	H	-7.51	D	-2.86	D	0.971	6.780	32	0.998	0.992	D	0.901	D	0.997	D	0.722	0	5.13	0.917	1.048	1.000	1.000	18.936	Deleterious
1199	12	112489080	T	G	Pathogenic	PTPN11	.	.	.	.	.	.	.	.	.	.	12	112489080	112489080	T	G	exonic	PTPN11	.	nonsynonymous SNV	PTPN11:NM_002834:exon13:c.T1504G:p.S502A	12q24.13	.	rs121918458	0.042	D	0.726	P	0.678	P	0.000	D	1	D	1.49	L	-5.59	D	-2.76	D	0.883	5.268	25.7	0.997	0.986	D	1.104	D	0.957	D	0.722	0	5.13	0.991	1.061	1.000	1.000	15.226	Deleterious
1200	12	112489080	T	A	Pathogenic	PTPN11	.	.	.	.	.	.	.	.	.	.	12	112489080	112489080	T	A	exonic	PTPN11	.	nonsynonymous SNV	PTPN11:NM_002834:exon13:c.T1504A:p.S502T	12q24.13	.	rs121918458	0.002	D	0.808	P	0.664	P	0.000	D	1	A	2.675	M	-5.66	D	-2.76	D	0.907	6.421	29.7	0.997	0.985	D	1.099	D	0.970	D	0.722	0	5.13	0.991	1.061	1.000	1.000	15.226	Deleterious
1201	12	112489081	C	T	Pathogenic	PTPN11	.	.	.	.	.	.	.	.	.	.	12	112489081	112489081	C	T	exonic	PTPN11	.	nonsynonymous SNV	PTPN11:NM_002834:exon13:c.C1505T:p.S502L	12q24.13	.	rs397507544	0.001	D	1.0	D	0.986	D	0.000	D	1	D	2.245	M	-5.61	D	-5.52	D	0.964	7.533	34	0.999	0.984	D	1.092	D	0.977	D	0.722	0	5.13	0.871	0.935	1.000	1.000	18.936	Deleterious
1202	12	112489083	G	A	Pathogenic	PTPN11	.	.	.	.	.	.	.	.	.	.	12	112489083	112489083	G	A	exonic	PTPN11	.	nonsynonymous SNV	PTPN11:NM_002834:exon13:c.G1507A:p.G503R	12q24.13	.	rs397507545	0.001	D	1.0	D	0.999	D	0.000	D	1	D	3.45	M	-5.83	D	-7.26	D	0.979	7.084	33	0.999	0.992	D	1.018	D	0.988	D	0.722	0	5.13	0.917	1.048	1.000	1.000	18.936	Deleterious
1203	12	112489083	G	C	Pathogenic	PTPN11	.	.	.	.	.	.	.	.	.	.	12	112489083	112489083	G	C	exonic	PTPN11	.	nonsynonymous SNV	PTPN11:NM_002834:exon13:c.G1507C:p.G503R	12q24.13	.	rs397507545	0.001	D	1.0	D	0.999	D	0.000	D	1	D	3.45	M	-5.83	D	-7.26	D	0.979	6.934	33	0.999	0.993	D	1.018	D	0.988	D	0.722	0	5.13	0.917	1.048	1.000	1.000	18.936	Deleterious
1204	12	112489086	A	G	Pathogenic	PTPN11	.	.	.	.	.	.	.	.	.	.	12	112489086	112489086	A	G	exonic	PTPN11	.	nonsynonymous SNV	PTPN11:NM_002834:exon13:c.A1510G:p.M504V	12q24.13	.	rs397507547	0.002	D	0.996	D	0.948	D	0.000	D	1	D	3.535	H	-1.86	D	-3.48	D	0.954	5.574	26.4	0.996	0.989	D	0.871	D	0.810	D	0.722	0	5.13	1.062	1.199	1.000	1.000	15.226	Deleterious
1205	12	112489093	A	C	Pathogenic	PTPN11	.	.	.	.	.	.	.	.	.	.	12	112489093	112489093	A	C	exonic	PTPN11	.	nonsynonymous SNV	PTPN11:NM_002834:exon13:c.A1517C:p.Q506P	12q24.13	.	rs397507548	0.001	D	0.869	P	0.825	P	0.000	D	1	D	3.58	H	-2.08	D	-5.51	D	0.992	6.081	28.2	0.994	0.990	D	0.886	D	0.823	D	0.722	0	5.13	1.062	1.199	1.000	1.000	15.226	Deleterious
1206	12	112489104	C	G	Pathogenic	PTPN11	.	.	.	.	.	.	.	.	.	.	12	112489104	112489104	C	G	exonic	PTPN11	.	nonsynonymous SNV	PTPN11:NM_002834:exon13:c.C1528G:p.Q510E	12q24.13	.	rs397507549	0.001	D	1.0	D	0.99	D	0.000	D	1	D	4.02	H	-6.36	D	-2.73	D	0.983	5.986	27.8	0.995	0.988	D	0.946	D	0.993	D	0.722	0	5.13	0.871	0.935	1.000	1.000	18.936	Deleterious
1207	12	112489105	A	C	Pathogenic	PTPN11	.	.	.	.	.	.	.	.	.	.	12	112489105	112489105	A	C	exonic	PTPN11	.	nonsynonymous SNV	PTPN11:NM_002834:exon13:c.A1529C:p.Q510P	12q24.13	.	rs121918470	0.001	D	1.0	D	0.999	D	0.000	D	1	D	4.48	H	-6.39	D	-5.22	D	0.996	5.846	27.3	0.995	0.990	D	0.921	D	0.994	D	0.722	0	5.13	1.062	1.199	1.000	1.000	15.226	Deleterious
1208	12	114385521	G	A	Pathogenic/Likely pathogenic	TBX5	.	.	.	.	.	.	.	.	.	.	12	114385521	114385521	G	A	exonic	TBX5	.	nonsynonymous SNV	TBX5:NM_080717:exon6:c.G560T:p.R187L,TBX5:NM_000192:exon7:c.G710T:p.R237L,TBX5:NM_181486:exon7:c.G710T:p.R237L	12q24.21	.	.	0.0	D	1.0	D	0.999	D	0.000	D	1	D	2.03	M	-2.64	D	-5.89	D	0.983	8.175	35	0.999	0.988	D	0.681	D	0.827	D	0.487	0	5.27	0.871	0.935	1.000	1.000	18.888	Deleterious
1209	12	120727115	C	T	Pathogenic/Likely pathogenic	ACADS	.	.	.	.	.	.	.	.	.	.	12	120727115	120727115	C	T	exonic	ACADS	.	nonsynonymous SNV	ACADS:NM_000017:exon2:c.C136T:p.R46W,ACADS:NM_001302554:exon2:c.C136T:p.R46W	12q24.31	.	rs121908003	0.0	D	1.0	D	0.998	D	0.000	D	1	A	4.47	H	-7.06	D	-6.78	D	0.886	7.377	34	0.999	0.785	D	0.940	D	0.995	D	0.732	0	3.56	0.871	0.848	0.999	1.000	11.766	Deleterious
1210	12	120737094	C	T	Pathogenic	ACADS	.	.	.	.	.	.	.	.	.	.	12	120737094	120737094	C	T	exonic	ACADS	.	nonsynonymous SNV	ACADS:NM_000017:exon3:c.C319T:p.R107C,ACADS:NM_001302554:exon3:c.C319T:p.R107C	12q24.31	0.0008	rs61732144	0.0	D	1.0	D	0.999	D	0.000	D	1	A	4.365	H	-6.93	D	-7.78	D	0.929	7.242	34	0.999	0.818	D	0.930	D	0.995	D	0.706	0	3.88	0.871	0.852	0.992	0.955	13.511	Deleterious
1211	12	120737893	T	C	Pathogenic/Likely pathogenic	ACADS	.	.	.	.	.	.	.	.	.	.	12	120737893	120737893	T	C	exonic	ACADS	.	nonsynonymous SNV	ACADS:NM_000017:exon5:c.T529C:p.W177R	12q24.31	0.0023	rs57443665	0.0	D	0.995	D	0.978	D	0.000	D	1	D	3.86	H	-3.89	D	-8.76	D	0.989	5.153	25.4	0.995	0.956	D	0.924	D	0.930	D	0.706	0	5.16	0.991	0.964	0.848	0.534	14.980	Deleterious
1212	12	120739347	C	T	Pathogenic/Likely pathogenic	ACADS	.	.	.	.	.	.	.	.	.	.	12	120739347	120739347	C	T	exonic	ACADS	.	nonsynonymous SNV	ACADS:NM_000017:exon10:c.C1138T:p.R380W,ACADS:NM_001302554:exon10:c.C1126T:p.R376W	12q24.31	.	rs28940875	0.0	D	1.0	D	1.0	D	0.000	D	1	A	3.935	H	-4.37	D	-7.82	D	0.958	6.202	28.7	0.999	0.893	D	1.091	D	0.964	D	0.718	0	3.84	0.871	0.048	0.955	0.925	14.290	Deleterious
1213	13	20188965	A	G	Pathogenic	GJB2	.	.	.	.	.	.	.	.	.	.	13	20188965	20188965	A	G	exonic	GJB2	.	nonsynonymous SNV	GJB2:NM_004004:exon2:c.A617C:p.N206T	13q12.11	.	.	0.095	T	1.0	D	0.993	D	0.000	D	1	D	2.2	M	-3.83	D	-4.69	D	0.544	2.665	20.6	0.991	0.954	D	0.959	D	0.903	D	0.549	0	4.45	0.991	0.114	0.998	0.448	13.048	Deleterious
1214	13	20189031	G	C	Pathogenic/Likely pathogenic	GJB2	.	.	.	.	.	.	.	.	.	.	13	20189031	20189031	G	C	exonic	GJB2	.	synonymous SNV	GJB2:NM_004004:exon2:c.G551G:p.R184R	13q12.11	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
1215	13	20189155	C	T	Pathogenic	GJB2	.	.	.	.	.	.	.	.	.	.	13	20189155	20189155	C	T	exonic	GJB2	.	synonymous SNV	GJB2:NM_004004:exon2:c.C427A:p.R143R	13q12.11	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
1216	13	20189166	G	A	Pathogenic/Likely pathogenic	GJB2	.	.	.	.	.	.	.	.	.	.	13	20189166	20189166	G	A	exonic	GJB2	.	nonsynonymous SNV	GJB2:NM_004004:exon2:c.G416T:p.S139I	13q12.11	.	.	0.002	D	1.0	D	0.999	D	0.000	D	1	D	2.43	M	-4.6	D	-5.49	D	0.938	6.639	32	0.997	0.972	D	1.102	D	0.957	D	0.677	0	5.47	0.871	0.852	1.000	0.999	19.695	Deleterious
1217	13	20189212	C	T	Pathogenic	GJB2	.	.	.	.	.	.	.	.	.	.	13	20189212	20189212	C	T	exonic	GJB2	.	nonsynonymous SNV	GJB2:NM_004004:exon2:c.C370A:p.Q124K	13q12.11	.	.	0.671	T	0.0	B	0.001	B	0.000	D	0.793	N	0.755	N	-4.33	D	-0.5	N	0.144	-0.994	0.016	0.665	0.507	D	0.086	D	0.755	D	0.765	0	3.65	0.917	0.953	0.993	0.938	10.365	Deleterious
1218	13	20189217	A	T	Pathogenic/Likely pathogenic	GJB2	.	.	.	.	.	.	.	.	.	.	13	20189217	20189217	A	T	exonic	GJB2	.	synonymous SNV	GJB2:NM_004004:exon2:c.A365A:p.K122K	13q12.11	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
1219	13	20189284	C	T	Pathogenic/Likely pathogenic	GJB2	.	.	.	.	.	.	.	.	.	.	13	20189284	20189284	C	T	exonic	GJB2	.	nonsynonymous SNV	GJB2:NM_004004:exon2:c.C298A:p.H100N	13q12.11	.	.	0.168	T	0.632	P	0.318	B	0.000	D	1.000	D	1.74	L	-5.36	D	-2.51	D	0.445	1.630	14.02	0.991	0.976	D	1.089	D	0.937	D	0.598	0	5.33	0.917	0.953	0.997	0.948	19.382	Deleterious
1220	13	20189299	G	A	Pathogenic/Likely pathogenic	GJB2	.	.	.	.	.	.	.	.	.	.	13	20189299	20189299	G	A	exonic	GJB2	.	nonsynonymous SNV	GJB2:NM_004004:exon2:c.G283T:p.V95L	13q12.11	.	.	0.002	D	0.081	B	0.225	B	0.001	N	1	D	3.3	M	-5.54	D	-2.84	D	0.705	5.108	25.3	0.987	0.945	D	1.101	D	0.962	D	0.598	0	4.24	0.033	0.852	0.985	0.996	12.702	Deleterious
1221	13	20189313	T	C	Pathogenic	GJB2	.	.	.	.	.	.	.	.	.	.	13	20189313	20189313	T	C	exonic	GJB2	.	nonsynonymous SNV	GJB2:NM_004004:exon2:c.T269G:p.L90R	13q12.11	.	.	0.0	D	1.0	D	0.999	D	0.000	D	1	D	3.215	M	-5.63	D	-5.68	D	0.996	5.320	25.8	0.998	0.981	D	1.049	D	0.983	D	0.598	0	5.33	1.062	1.088	0.981	0.887	15.593	Deleterious
1222	13	20189332	G	T	Pathogenic/Likely pathogenic	GJB2	.	.	.	.	.	.	.	.	.	.	13	20189332	20189332	G	T	exonic	GJB2	.	nonsynonymous SNV	GJB2:NM_004004:exon2:c.G250A:p.V84M	13q12.11	.	rs104894409	0.0	D	1.0	D	1.0	D	0.000	D	1	D	2.97	M	-5.97	D	-3.0	D	0.926	6.682	32	0.999	0.972	D	1.046	D	0.986	D	0.598	0	5.33	0.871	0.852	0.989	0.907	19.382	Deleterious
1223	13	20189332	G	C	Pathogenic	GJB2	.	.	.	.	.	.	.	.	.	.	13	20189332	20189332	G	C	exonic	GJB2	.	synonymous SNV	GJB2:NM_004004:exon2:c.G250G:p.V84V	13q12.11	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
1224	13	20189352	G	A	Pathogenic/Likely pathogenic	GJB2	.	.	.	.	.	.	.	.	.	.	13	20189352	20189352	G	A	exonic	GJB2	.	nonsynonymous SNV	GJB2:NM_004004:exon2:c.G230T:p.W77L	13q12.11	.	.	0.0	D	1.0	D	1.0	D	0.000	D	1	D	3.655	H	-6.04	D	-12.96	D	0.947	6.645	32	0.987	0.976	D	1.006	D	0.989	D	0.598	0	5.33	0.871	0.852	0.998	0.984	19.382	Deleterious
1225	13	20189353	T	C	Pathogenic	GJB2	.	.	.	.	.	.	.	.	.	.	13	20189353	20189353	T	C	exonic	GJB2	.	nonsynonymous SNV	GJB2:NM_004004:exon2:c.T229G:p.W77G	13q12.11	.	.	0.0	D	1.0	D	1.0	D	0.000	D	1	D	3.655	H	-6.12	D	-12.96	D	0.98	5.358	25.9	0.980	0.980	D	0.983	D	0.990	D	0.598	0	5.18	1.062	1.088	0.997	0.979	15.329	Deleterious
1226	13	20189358	G	A	Pathogenic	GJB2	.	.	.	.	.	.	.	.	.	.	13	20189358	20189358	G	A	exonic	GJB2	.	nonsynonymous SNV	GJB2:NM_004004:exon2:c.G224T:p.R75L	13q12.11	.	.	0.0	D	1.0	D	1.0	D	0.000	D	1	D	3.64	H	-5.99	D	-7.0	D	0.987	7.443	34	0.999	0.976	D	1.003	D	0.989	D	0.598	0	5.18	0.871	0.852	0.996	0.990	19.059	Deleterious
1227	13	20189413	C	T	Pathogenic	GJB2	.	.	.	.	.	.	.	.	.	.	13	20189413	20189413	C	T	exonic	GJB2	.	nonsynonymous SNV	GJB2:NM_004004:exon2:c.C169A:p.Q57K	13q12.11	.	.	0.0	D	1.0	D	0.998	D	0.000	D	1	D	3.605	H	-5.74	D	-3.96	D	0.919	4.904	24.9	0.995	0.985	D	1.032	D	0.986	D	0.765	0	5.32	0.917	0.953	0.904	0.548	19.372	Deleterious
1228	13	20189443	G	T	Pathogenic	GJB2	.	.	.	.	.	.	.	.	.	.	13	20189443	20189443	G	T	exonic	GJB2	.	nonsynonymous SNV	GJB2:NM_004004:exon2:c.G139A:p.E47K	13q12.11	.	.	0.001	D	1.0	D	1.0	D	0.000	D	1	D	3.62	H	-6.06	D	-3.86	D	0.995	6.366	29.4	0.999	0.968	D	1.003	D	0.989	D	0.677	0	5.21	0.871	0.852	1.000	0.908	19.121	Deleterious
1229	13	20189451	G	A	Pathogenic/Likely pathogenic	GJB2	.	.	.	.	.	.	.	.	.	.	13	20189451	20189451	G	A	exonic	GJB2	.	nonsynonymous SNV	GJB2:NM_004004:exon2:c.G131T:p.W44L	13q12.11	.	.	0.0	D	1.0	D	1.0	D	0.000	D	1	D	3.365	M	-5.65	D	-12.83	D	0.901	6.511	31	0.988	0.974	D	1.043	D	0.985	D	0.598	0	5.21	0.871	0.852	1.000	0.994	19.121	Deleterious
1230	13	20189473	G	A	Pathogenic/Likely pathogenic	GJB2	.	.	.	.	.	.	.	.	.	.	13	20189473	20189473	G	A	exonic	GJB2	.	nonsynonymous SNV	GJB2:NM_004004:exon2:c.G109T:p.V37F	13q12.11	.	rs72474224	0.129	T	1.0	D	1.0	D	0.000	D	1	D	2.685	M	-5.51	D	-4.29	D	0.921	4.158	23.8	0.986	0.968	D	1.095	D	0.975	D	0.534	0	5.21	0.871	0.852	0.996	0.515	19.121	Deleterious
1231	13	20189511	G	A	Pathogenic	GJB2	.	.	.	.	.	.	.	.	.	.	13	20189511	20189511	G	A	exonic	GJB2	.	nonsynonymous SNV	GJB2:NM_004004:exon2:c.G71T:p.W24L	13q12.11	.	.	0.001	D	1.0	D	1.0	D	0.000	D	1	D	2.46	M	-5.84	D	-12.72	D	0.897	5.282	25.7	0.987	0.976	D	1.071	D	0.982	D	0.534	0	5.21	0.871	0.852	0.998	0.977	19.121	Deleterious
1232	13	20189538	A	C	Pathogenic/Likely pathogenic	GJB2	.	.	.	.	.	.	.	.	.	.	13	20189538	20189538	A	C	exonic	GJB2	.	nonsynonymous SNV	GJB2:NM_004004:exon2:c.A44G:p.K15R	13q12.11	.	.	0.221	T	0.003	B	0.004	B	0.000	D	0.980	D	0.095	N	-5.44	D	-1.22	N	0.193	-0.196	1.119	0.978	0.751	D	0.570	D	0.839	D	0.598	0	5.36	0.991	0.964	0.999	0.931	8.200	Deleterious
1233	13	20189547	G	T	Pathogenic/Likely pathogenic	GJB2	.	.	.	.	.	.	.	.	.	.	13	20189547	20189547	G	T	exonic	GJB2	.	nonsynonymous SNV	GJB2:NM_004004:exon2:c.G35A:p.G12D	13q12.11	.	rs1801002	0.03	D	1.0	D	0.993	D	0.000	D	1	D	2.2	M	-5.38	D	-6.35	D	0.979	3.761	23.3	0.998	0.977	D	1.101	D	0.971	D	0.598	0	5.36	0.871	0.852	0.999	0.591	19.444	Deleterious
1234	13	20192782	G	A	Pathogenic	GJB2	.	.	.	.	.	.	.	.	.	.	13	20192782	20192782	G	A	splicing	GJB2	.	.	.	13q12.11	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.
1235	13	20223450	G	A	Pathogenic	GJB6	.	.	.	.	.	.	.	.	.	.	13	20223450	20223450	G	A	exonic	GJB6	.	nonsynonymous SNV	GJB6:NM_001110221:exon3:c.G31T:p.G11W,GJB6:NM_006783:exon3:c.G31T:p.G11W,GJB6:NM_001110220:exon4:c.G31T:p.G11W,GJB6:NM_001110219:exon5:c.G31T:p.G11W	13q12.11	.	.	0.001	D	1.0	D	0.99	D	0.000	D	1.000	D	1.87	L	-5.44	D	-4.0	D	0.764	5.322	25.8	0.993	0.975	D	1.083	D	0.962	D	0.487	0	5.38	0.871	0.935	0.772	0.027	12.490	Deleterious
1236	13	23324452	G	A	Pathogenic	SGCG	.	.	.	.	.	.	.	.	.	.	13	23324452	23324452	G	A	exonic	SGCG	.	nonsynonymous SNV	SGCG:NM_000231:exon8:c.G787A:p.E263K	13q12.12	.	rs104894423	0.003	D	1.0	D	0.999	D	0.000	D	1	A	2.83	M	-3.32	D	-2.57	D	0.981	6.670	32	0.999	0.957	D	0.841	D	0.892	D	0.601	0	5.28	0.917	0.953	0.998	0.914	18.911	Deleterious
1237	13	31269278	G	A	Pathogenic	B3GLCT	.	.	.	.	.	.	.	.	.	.	13	31269278	31269278	G	A	splicing	B3GLCT	NM_194318:exon8:c.660+1G>A	.	.	13q12.3	0.0005	rs80338851	.	.	.	.	.	.	.	.	1	A	.	.	.	.	.	.	.	6.130	28.4	0.996	0.993	D	.	.	.	.	0.075	0	6.08	0.917	1.048	0.968	0.993	20.663	Deleterious (FATHMM)
1238	13	32316462	T	G	Pathogenic	BRCA2	.	.	.	.	.	.	.	.	.	.	13	32316462	32316462	T	G	exonic	BRCA2	.	nonsynonymous SNV	BRCA2:NM_000059:exon2:c.T2G:p.M1R	13q13.1	.	rs80358547	0.0	D	0.998	D	0.994	D	0.000	D	1	D	.	.	5.51	T	-1.44	N	0.762	4.760	24.7	0.980	0.888	D	-1.061	T	0.013	T	0.267	1	5.27	0.991	0.913	0.244	0.898	12.847	Tolerated
1239	13	32316463	G	A	Pathogenic	BRCA2	.	.	.	.	.	.	.	.	.	.	13	32316463	32316463	G	A	exonic	BRCA2	.	nonsynonymous SNV	BRCA2:NM_000059:exon2:c.G3A:p.M1I	13q13.1	.	rs80358650	0.0	D	0.998	D	0.991	D	0.000	D	1	D	.	.	5.61	T	-0.96	N	0.917	3.650	23.2	0.997	0.902	D	-1.084	T	0.015	T	0.267	1	5.27	0.917	0.902	0.229	0.880	15.961	Tolerated
1240	13	32316528	G	C	Pathogenic/Likely pathogenic	BRCA2	.	.	.	.	.	.	.	.	.	.	13	32316528	32316528	G	C	splicing	BRCA2	NM_000059:exon2:c.67+1G>C	.	.	13q13.1	.	.	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	4.719	24.6	0.995	0.903	D	.	.	.	.	0.120	0	5.1	0.917	0.902	0.849	0.948	15.580	Deleterious (FATHMM)
1241	13	32316528	G	T	Pathogenic	BRCA2	.	.	.	.	.	.	.	.	.	.	13	32316528	32316528	G	T	splicing	BRCA2	NM_000059:exon2:c.67+1G>T	.	.	13q13.1	.	rs81002796	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	4.767	24.7	0.995	0.899	D	.	.	.	.	0.120	0	5.1	0.917	0.902	0.849	0.948	15.580	Deleterious (FATHMM)
1242	13	32316528	G	A	Pathogenic	BRCA2	.	.	.	.	.	.	.	.	.	.	13	32316528	32316528	G	A	splicing	BRCA2	NM_000059:exon2:c.67+1G>A	.	.	13q13.1	.	rs81002796	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	5.204	25.5	0.994	0.887	D	.	.	.	.	0.120	0	5.1	0.917	0.902	0.849	0.948	15.580	Deleterious (FATHMM)
1243	13	32316529	T	C	Pathogenic	BRCA2	.	.	.	.	.	.	.	.	.	.	13	32316529	32316529	T	C	splicing	BRCA2	NM_000059:exon2:c.67+2T>C	.	.	13q13.1	.	rs81002885	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	4.426	24.2	0.991	0.855	D	.	.	.	.	0.079	0	5.1	0.991	0.913	0.844	0.917	12.536	Deleterious (FATHMM)
1244	13	32325185	G	A	Pathogenic/Likely pathogenic	BRCA2	.	.	.	.	.	.	.	.	.	.	13	32325185	32325185	G	A	splicing	BRCA2	NM_000059:exon4:c.425+1G>A	.	.	13q13.1	.	rs587782590	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	5.723	26.9	0.994	0.917	D	.	.	.	.	0.164	0	5.84	0.917	0.953	1.000	0.999	15.639	Deleterious (FATHMM)
1245	13	32326099	A	G	Pathogenic	BRCA2	.	.	.	.	.	.	.	.	.	.	13	32326099	32326099	A	G	splicing	BRCA2	NM_000059:exon5:c.426-2A>G	.	.	13q13.1	.	rs398122779	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	3.204	22.7	0.983	0.969	D	.	.	.	.	0.164	0	4.91	1.006	0.822	0.522	0.746	14.539	Deleterious (FATHMM)
1246	13	32326150	G	A	Pathogenic/Likely pathogenic, not provided	BRCA2	.	.	.	.	.	.	.	.	.	.	13	32326150	32326150	G	A	exonic	BRCA2	.	nonsynonymous SNV	BRCA2:NM_000059:exon5:c.G475A:p.V159M	13q13.1	.	rs80358702	0.011	D	1.0	D	0.986	D	0.044	N	1	D	1.905	M	5.67	T	-0.76	N	0.668	4.788	24.7	0.998	0.745	D	-0.928	T	0.011	T	0.651	0	4.06	0.868	0.725	0.537	0.977	9.443	Tolerated
1247	13	32326151	G	T	Pathogenic/Likely pathogenic	BRCA2	.	.	.	.	.	.	.	.	.	.	13	32326151	32326151	G	T	splicing	BRCA2	NM_000059:exon5:c.475+1G>T	.	.	13q13.1	.	rs81002797	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	4.256	23.9	0.994	0.970	D	.	.	.	.	0.106	0	4.91	0.868	0.725	0.576	0.978	18.093	Deleterious (FATHMM)
1248	13	32326497	A	G	Pathogenic/Likely pathogenic, not provided	BRCA2	.	.	.	.	.	.	.	.	.	.	13	32326497	32326497	A	G	splicing	BRCA2	NM_000059:exon7:c.517-2A>G	.	.	13q13.1	.	rs81002858	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	3.147	22.6	0.963	0.972	D	.	.	.	.	0.106	0	4.3	1.003	1.083	0.809	0.549	7.534	Deleterious (FATHMM)
1249	13	32326498	G	A	Pathogenic	BRCA2	.	.	.	.	.	.	.	.	.	.	13	32326498	32326498	G	A	splicing	BRCA2	NM_000059:exon7:c.517-1G>A	.	.	13q13.1	.	rs81002849	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	4.178	23.8	0.995	0.990	D	.	.	.	.	0.106	0	5.17	0.866	0.949	0.862	0.650	15.937	Deleterious (FATHMM)
1250	13	32326613	G	A	Pathogenic	BRCA2	.	.	.	.	.	.	.	.	.	.	13	32326613	32326613	G	A	exonic	BRCA2	.	nonsynonymous SNV	BRCA2:NM_000059:exon7:c.G631A:p.V211I	13q13.1	.	rs80358871	0.036	D	0.734	P	0.257	B	0.908	N	0.975	N	1.32	L	5.65	T	-0.25	N	0.834	5.402	26.0	0.998	0.917	D	-0.833	T	0.005	T	0.651	0	5.65	0.917	0.949	0.996	0.999	12.985	Tolerated
1251	13	32326614	G	A	Pathogenic	BRCA2	.	.	.	.	.	.	.	.	.	.	13	32326614	32326614	G	A	splicing	BRCA2	NM_000059:exon7:c.631+1G>A	.	.	13q13.1	.	rs81002897	.	.	.	.	.	.	.	.	1	A	.	.	.	.	.	.	.	5.552	26.4	0.995	0.993	D	.	.	.	.	0.099	0	5.65	0.917	0.949	0.991	0.997	19.715	Deleterious (FATHMM)
1252	13	32326615	T	G	Pathogenic	BRCA2	.	.	.	.	.	.	.	.	.	.	13	32326615	32326615	T	G	splicing	BRCA2	NM_000059:exon7:c.631+2T>G	.	.	13q13.1	.	rs81002899	.	.	.	.	.	.	.	.	1	A	.	.	.	.	.	.	.	4.456	24.2	0.978	0.988	D	.	.	.	.	0.099	0	4.46	0.991	0.961	0.980	0.993	11.434	Deleterious (FATHMM)
1253	13	32329441	A	G	Pathogenic	BRCA2	.	.	.	.	.	.	.	.	.	.	13	32329441	32329441	A	G	splicing	BRCA2	NM_000059:exon8:c.632-2A>G	.	.	13q13.1	.	rs397507842	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	3.287	22.8	0.987	0.968	D	.	.	.	.	0.106	0	5.54	1.062	1.178	0.526	0.966	12.350	Deleterious (FATHMM)
1254	13	32331031	G	A	Pathogenic	BRCA2	.	.	.	.	.	.	.	.	.	.	13	32331031	32331031	G	A	splicing	BRCA2	NM_000059:exon9:c.793+1G>A	.	.	13q13.1	.	rs81002846	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	3.473	23.0	0.983	0.894	D	.	.	.	.	0.106	0	4.47	0.917	0.998	0.145	0.066	15.826	Deleterious (FATHMM)
1255	13	32333388	G	A	Pathogenic/Likely pathogenic	BRCA2	.	.	.	.	.	.	.	.	.	.	13	32333388	32333388	G	A	splicing	BRCA2	NM_000059:exon10:c.1909+1G>A	.	.	13q13.1	.	rs587781629	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	4.406	24.1	0.991	0.990	D	.	.	.	.	0.106	0	5.37	0.917	1.048	0.932	0.905	16.619	Deleterious (FATHMM)
1256	13	32346896	G	T	Pathogenic/Likely pathogenic	BRCA2	.	.	.	.	.	.	.	.	.	.	13	32346896	32346896	G	T	exonic	BRCA2	.	nonsynonymous SNV	BRCA2:NM_000059:exon13:c.G7007T:p.R2336L	13q13.1	.	rs28897743	0.092	T	0.012	B	0.005	B	0.781	N	1	D	1.1	L	-1.06	T	-0.01	N	0.651	3.426	23.0	0.987	0.859	D	-0.685	T	0.340	T	0.615	0	5.03	0.917	1.030	0.882	0.931	13.860	Tolerated
1257	13	32346896	G	C	Pathogenic	BRCA2	.	.	.	.	.	.	.	.	.	.	13	32346896	32346896	G	C	exonic	BRCA2	.	nonsynonymous SNV	BRCA2:NM_000059:exon13:c.G7007C:p.R2336P	13q13.1	.	rs28897743	0.238	T	0.261	B	0.044	B	0.781	N	1	D	1.1	L	-1.1	T	-0.4	N	0.877	4.481	24.2	0.946	0.900	D	-0.712	T	0.314	T	0.615	0	5.03	0.917	1.030	0.882	0.931	13.860	Tolerated
1258	13	32354860	G	A	Pathogenic/Likely pathogenic	BRCA2	.	.	.	.	.	.	.	.	.	.	13	32354860	32354860	G	A	splicing	BRCA2	NM_000059:exon14:c.7008-1G>A	.	.	13q13.1	.	rs786204280	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	4.072	23.7	0.991	0.975	D	.	.	.	.	0.099	0	5.66	0.917	1.048	0.548	0.092	18.303	Deleterious (FATHMM)
1259	13	32356611	T	G	Pathogenic	BRCA2	.	.	.	.	.	.	.	.	.	.	13	32356611	32356611	T	G	splicing	BRCA2	NM_000059:exon15:c.7617+2T>G	.	.	13q13.1	.	rs81002843	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	4.878	24.9	0.992	0.982	D	.	.	.	.	0.099	0	5.38	0.991	1.061	0.869	0.852	15.692	Deleterious (FATHMM)
1260	13	32357930	G	A	Pathogenic/Likely pathogenic, not provided	BRCA2	.	.	.	.	.	.	.	.	.	.	13	32357930	32357930	G	A	splicing	BRCA2	NM_000059:exon16:c.7805+1G>A	.	.	13q13.1	.	rs81002809	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	5.666	26.7	0.996	0.991	D	.	.	.	.	0.164	0	5.15	0.917	0.902	0.864	0.958	18.628	Deleterious (FATHMM)
1261	13	32362521	A	G	Pathogenic/Likely pathogenic	BRCA2	.	.	.	.	.	.	.	.	.	.	13	32362521	32362521	A	G	splicing	BRCA2	NM_000059:exon17:c.7806-2A>G	.	.	13q13.1	.	rs81002836	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	4.964	25.1	0.995	0.996	D	.	.	.	.	0.106	0	5.66	1.062	1.199	0.970	0.850	16.182	Deleterious (FATHMM)
1262	13	32362694	G	A	Pathogenic/Likely pathogenic, not provided	BRCA2	.	.	.	.	.	.	.	.	.	.	13	32362694	32362694	G	A	splicing	BRCA2	NM_000059:exon17:c.7976+1G>A	.	.	13q13.1	.	rs81002873	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	5.975	27.7	0.996	0.981	D	.	.	.	.	0.156	0	5.66	0.917	1.048	0.965	1.000	20.104	Deleterious (FATHMM)
1263	13	32363178	G	C	Pathogenic	BRCA2	.	.	.	.	.	.	.	.	.	.	13	32363178	32363178	G	C	splicing	BRCA2	NM_000059:exon18:c.7977-1G>C	.	.	13q13.1	.	rs81002874	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	4.871	24.9	0.996	0.994	D	.	.	.	.	0.106	0	4.93	0.917	0.998	0.992	0.950	18.510	Deleterious (FATHMM)
1264	13	32363225	A	G	Pathogenic/Likely pathogenic	BRCA2	.	.	.	.	.	.	.	.	.	.	13	32363225	32363225	A	G	exonic	BRCA2	.	nonsynonymous SNV	BRCA2:NM_000059:exon18:c.A8023G:p.I2675V	13q13.1	.	rs397507954	0.0	D	0.999	D	0.995	D	0.000	D	1.000	D	2.19	M	-1.95	D	-0.3	N	0.66	5.346	25.9	0.999	0.992	D	0.579	D	0.726	D	0.651	0	4.93	1.062	1.140	1.000	1.000	14.879	Deleterious
1265	13	32363534	G	A	Pathogenic/Likely pathogenic, not provided	BRCA2	.	.	.	.	.	.	.	.	.	.	13	32363534	32363534	G	A	splicing	BRCA2	NM_000059:exon18:c.8331+1G>A	.	.	13q13.1	.	rs81002837	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	5.721	26.9	0.996	0.997	D	.	.	.	.	0.322	0	5.68	0.917	1.048	0.984	1.000	19.789	Deleterious (FATHMM)
1266	13	32370400	A	G	Pathogenic/Likely pathogenic	BRCA2	.	.	.	.	.	.	.	.	.	.	13	32370400	32370400	A	G	splicing	BRCA2	NM_000059:exon19:c.8332-2A>G	.	.	13q13.1	.	rs587782774	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	5.125	25.4	0.995	0.998	D	.	.	.	.	0.164	0	5.33	1.062	1.082	0.847	0.992	15.312	Deleterious (FATHMM)
1267	13	32370401	G	T	Pathogenic	BRCA2	.	.	.	.	.	.	.	.	.	.	13	32370401	32370401	G	T	splicing	BRCA2	NM_000059:exon19:c.8332-1G>T	.	.	13q13.1	.	rs397507979	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	5.413	26.0	0.995	0.999	D	.	.	.	.	0.164	0	5.33	0.917	0.948	0.905	0.996	19.029	Deleterious (FATHMM)
1268	13	32370955	G	A	Pathogenic/Likely pathogenic	BRCA2	.	.	.	.	.	.	.	.	.	.	13	32370955	32370955	G	A	splicing	BRCA2	NM_000059:exon20:c.8488-1G>A	.	.	13q13.1	.	rs397507404	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	5.363	25.9	0.995	0.987	D	.	.	.	.	0.156	0	5.1	0.868	0.729	0.993	0.923	18.522	Deleterious (FATHMM)
1269	13	32376669	G	A	Pathogenic/Likely pathogenic	BRCA2	.	.	.	.	.	.	.	.	.	.	13	32376669	32376669	G	A	splicing	BRCA2	NM_000059:exon21:c.8633-1G>A	.	.	13q13.1	.	rs398122711	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	3.967	23.6	0.992	0.968	D	.	.	.	.	0.156	0	5.32	0.917	0.865	0.103	0.267	16.157	Deleterious (FATHMM)
1270	13	32376791	G	A	Pathogenic/Likely pathogenic, not provided	BRCA2	.	.	.	.	.	.	.	.	.	.	13	32376791	32376791	G	A	exonic	BRCA2	.	synonymous SNV	BRCA2:NM_000059:exon21:c.G8754A:p.E2918E	13q13.1	.	rs80359803	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
1271	13	32376792	G	A	Pathogenic	BRCA2	.	.	.	.	.	.	.	.	.	.	13	32376792	32376792	G	A	splicing	BRCA2	NM_000059:exon21:c.8754+1G>A	.	.	13q13.1	.	rs397508006	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	5.544	26.4	0.996	0.994	D	.	.	.	.	0.295	0	5.31	0.913	0.863	0.963	0.976	18.986	Deleterious (FATHMM)
1272	13	32379913	G	A	Pathogenic	BRCA2	.	.	.	.	.	.	.	.	.	.	13	32379913	32379913	G	A	exonic	BRCA2	.	synonymous SNV	BRCA2:NM_000059:exon23:c.G9117A:p.P3039P	13q13.1	.	rs28897756	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
1273	13	32380005	A	G	Pathogenic	BRCA2	.	.	.	.	.	.	.	.	.	.	13	32380005	32380005	A	G	splicing	BRCA2	NM_000059:exon24:c.9118-2A>G	.	.	13q13.1	.	rs81002862	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	3.694	23.3	0.983	0.994	D	.	.	.	.	0.164	0	5.51	1.062	1.199	0.027	0.320	15.915	Deleterious (FATHMM)
1274	13	32380006	G	A	Pathogenic	BRCA2	.	.	.	.	.	.	.	.	.	.	13	32380006	32380006	G	A	splicing	BRCA2	NM_000059:exon24:c.9118-1G>A	.	.	13q13.1	.	.	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	4.191	23.8	0.991	0.987	D	.	.	.	.	0.164	0	5.51	0.917	1.048	0.028	0.388	19.776	Deleterious (FATHMM)
1275	13	32394688	G	C	Pathogenic/Likely pathogenic	BRCA2	.	.	.	.	.	.	.	.	.	.	13	32394688	32394688	G	C	splicing	BRCA2	NM_000059:exon25:c.9257-1G>C	.	.	13q13.1	.	rs81002889	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	3.576	23.2	0.992	0.981	D	.	.	.	.	0.164	0	5.9	0.917	1.048	0.777	0.870	18.453	Deleterious (FATHMM)
1276	13	32396896	A	C	Pathogenic/Likely pathogenic, not provided	BRCA2	.	.	.	.	.	.	.	.	.	.	13	32396896	32396896	A	C	splicing	BRCA2	NM_000059:exon26:c.9502-2A>C	.	.	13q13.1	.	rs81002868	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	3.874	23.5	0.982	0.989	D	.	.	.	.	0.156	0	5.94	1.062	1.199	0.969	0.997	14.136	Deleterious (FATHMM)
1277	13	32397045	G	C	Pathogenic	BRCA2	.	.	.	.	.	.	.	.	.	.	13	32397045	32397045	G	C	splicing	BRCA2	NM_000059:exon26:c.9648+1G>C	.	.	13q13.1	.	rs730881573	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	4.769	24.7	0.994	0.991	D	.	.	.	.	0.295	0	5.73	0.917	0.998	0.648	0.987	17.047	Deleterious (FATHMM)
1278	13	50945445	G	A	Pathogenic	RNASEH2B	.	.	.	.	.	.	.	.	.	.	13	50945445	50945445	G	A	exonic	RNASEH2B	.	nonsynonymous SNV	RNASEH2B:NM_001142279:exon7:c.G529A:p.A177T,RNASEH2B:NM_024570:exon7:c.G529A:p.A177T	13q14.3	0.0020	rs75184679	0.234	T	0.992	D	0.886	P	0.000	D	0.934	A	2.67	M	-3.97	D	-1.7	N	0.773	2.562	19.86	0.997	0.819	D	0.949	D	0.921	D	0.732	0	5.78	0.917	1.048	0.132	0.104	17.508	Deleterious
1279	13	51937342	C	T	Pathogenic/Likely pathogenic	ATP7B	.	.	.	.	.	.	.	.	.	.	13	51937342	51937342	C	T	exonic	ATP7B	.	synonymous SNV	ATP7B:NM_001005918:exon15:c.C3334A:p.R1112R,ATP7B:NM_000053:exon19:c.C3955A:p.R1319R,ATP7B:NM_001243182:exon20:c.C3622A:p.R1208R	13q14.3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
1280	13	51939091	C	T	Pathogenic/Likely pathogenic	ATP7B	.	.	.	.	.	.	.	.	.	.	13	51939091	51939091	C	T	exonic	ATP7B	.	nonsynonymous SNV	ATP7B:NM_001005918:exon13:c.C3038A:p.T1013K,ATP7B:NM_000053:exon17:c.C3659A:p.T1220K,ATP7B:NM_001243182:exon18:c.C3326A:p.T1109K	13q14.3	.	.	0.001	D	1.0	D	1.0	D	0.000	D	1	D	3.86	H	-4.7	D	-5.17	D	0.986	7.337	34	0.993	0.991	D	1.077	D	0.974	D	0.737	0	5.15	0.917	1.048	0.989	0.963	18.811	Deleterious
1281	13	51944145	C	A	Pathogenic	ATP7B	.	.	.	.	.	.	.	.	.	.	13	51944145	51944145	C	A	exonic	ATP7B	.	synonymous SNV	ATP7B:NM_001005918:exon10:c.C2586T:p.H862H,ATP7B:NM_000053:exon14:c.C3207T:p.H1069H,ATP7B:NM_001243182:exon15:c.C2874T:p.H958H	13q14.3	.	rs76151636	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
1282	13	51946369	C	T	Pathogenic	ATP7B	.	.	.	.	.	.	.	.	.	.	13	51946369	51946369	C	T	exonic	ATP7B	.	nonsynonymous SNV	ATP7B:NM_001005918:exon9:c.C2354A:p.P785H,ATP7B:NM_000053:exon13:c.C2975A:p.P992H,ATP7B:NM_001243182:exon14:c.C2642A:p.P881H	13q14.3	.	.	0.0	D	1.0	D	1.0	D	0.000	D	1	D	4.47	H	-2.37	D	-7.85	D	0.98	5.991	27.8	0.995	0.991	D	1.087	D	0.924	D	0.554	0	5.15	0.917	1.048	0.994	0.571	18.812	Deleterious
1283	13	51946414	C	T	Pathogenic	ATP7B	.	.	.	.	.	.	.	.	.	.	13	51946414	51946414	C	T	exonic	ATP7B	.	nonsynonymous SNV	ATP7B:NM_001005918:exon9:c.C2309A:p.T770K,ATP7B:NM_000053:exon13:c.C2930A:p.T977K,ATP7B:NM_001243182:exon14:c.C2597A:p.T866K	13q14.3	.	.	0.002	D	1.0	D	1.0	D	0.000	D	1	D	3.22	M	-2.73	D	-4.73	D	0.967	6.776	32	0.986	0.991	D	0.976	D	0.884	D	0.638	0	5.15	0.917	1.048	0.985	0.985	18.812	Deleterious
1284	13	51950132	G	A	Pathogenic	ATP7B	.	.	.	.	.	.	.	.	.	.	13	51950132	51950132	G	A	exonic	ATP7B	.	stopgain	ATP7B:NM_001005918:exon8:c.G2119T:p.G707X,ATP7B:NM_000053:exon11:c.G2605T:p.G869X,ATP7B:NM_001243182:exon12:c.G2272T:p.G758X	13q14.3	.	rs191312027	.	.	.	.	.	.	0.000	D	1	A	.	.	.	.	.	.	.	13.749	43	0.993	0.991	D	.	.	.	.	0.693	0	5.69	0.871	0.935	0.987	0.093	19.873	Deleterious (FATHMM)
1285	13	51950328	C	T	Pathogenic/Likely pathogenic	ATP7B	.	.	.	.	.	.	.	.	.	.	13	51950328	51950328	C	T	exonic	ATP7B	.	nonsynonymous SNV	ATP7B:NM_001005918:exon7:c.C2033A:p.P678Q,ATP7B:NM_000053:exon10:c.C2519A:p.P840Q,ATP7B:NM_001243182:exon11:c.C2186A:p.P729Q	13q14.3	.	.	0.0	D	1.0	D	1.0	D	0.000	D	1	D	4.01	H	-3.92	D	-6.58	D	0.97	6.665	32	0.995	0.992	D	1.090	D	0.958	D	0.615	0	5.73	0.917	1.048	0.999	1.000	19.893	Deleterious
1286	13	51958552	T	G	Pathogenic/Likely pathogenic	ATP7B	.	.	.	.	.	.	.	.	.	.	13	51958552	51958552	T	G	intronic	ATP7B	.	.	.	13q14.3	.	rs193922102	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	probably Tolerated (Intron)
1287	13	51961849	T	G	Pathogenic	ATP7B	.	.	.	.	.	.	.	.	.	.	13	51961849	51961849	T	G	exonic	ATP7B	.	nonsynonymous SNV	ATP7B:NM_000053:exon6:c.T1934C:p.M645T,ATP7B:NM_001243182:exon7:c.T1601C:p.M534T	13q14.3	.	.	0.45	T	0.104	B	0.018	B	0.072	N	1	D	0.205	N	-2.57	D	-0.5	N	0.068	1.529	13.47	0.851	0.835	D	-0.775	T	0.357	T	0.638	0	1.66	0.090	0.237	0.998	0.999	4.059	Tolerated
1288	13	51961906	G	C	Pathogenic/Likely pathogenic	ATP7B	.	.	.	.	.	.	.	.	.	.	13	51961906	51961906	G	C	exonic	ATP7B	.	synonymous SNV	ATP7B:NM_000053:exon6:c.G1877G:p.G626G,ATP7B:NM_001243182:exon7:c.G1544G:p.G515G	13q14.3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
1289	13	51974906	C	A	Pathogenic/Likely pathogenic	ATP7B	.	.	.	.	.	.	.	.	.	.	13	51974906	51974906	C	A	exonic	ATP7B	.	nonsynonymous SNV	ATP7B:NM_000053:exon2:c.C314T:p.S105L,ATP7B:NM_001005918:exon2:c.C314T:p.S105L,ATP7B:NM_001243182:exon2:c.C314T:p.S105L	13q14.3	.	rs753236073	0.657	T	0.851	P	0.329	B	0.014	N	1	N	2.37	M	-2.12	D	-2.15	N	0.176	1.337	12.46	0.986	0.458	N	-0.053	T	0.592	D	0.638	0	4.37	0.069	1.048	0.007	0.055	12.356	Deleterious
1290	13	51975098	A	G	Pathogenic/Likely pathogenic	ATP7B	.	.	.	.	.	.	.	.	.	.	13	51975098	51975098	A	G	exonic	ATP7B	.	nonsynonymous SNV	ATP7B:NM_000053:exon2:c.A122C:p.N41T,ATP7B:NM_001005918:exon2:c.A122C:p.N41T,ATP7B:NM_001243182:exon2:c.A122C:p.N41T	13q14.3	.	.	0.373	T	1.0	D	0.999	D	0.000	D	1.000	N	0.975	L	-4.01	D	-2.24	N	0.437	5.325	25.8	0.992	0.958	D	1.070	D	0.910	D	0.638	0	5.75	0.987	1.059	0.891	0.993	16.054	Deleterious
1291	13	76996086	G	A	Pathogenic/Likely pathogenic	CLN5|FBXL3	.	.	.	.	.	.	.	.	.	.	13	76996086	76996086	G	A	exonic	CLN5	.	stopgain	CLN5:NM_006493:exon3:c.G671A:p.W224X	13q22.3	7.7e-05	rs386833980	.	.	.	.	.	.	0.000	D	1	D	.	.	.	.	.	.	.	12.454	39	0.997	0.993	D	.	.	.	.	0.732	0	5.47	0.917	1.048	0.999	0.998	19.332	Deleterious (FATHMM)
1292	13	100273218	C	T	Pathogenic	PCCA	.	.	.	.	.	.	.	.	.	.	13	100273218	100273218	C	T	exonic	PCCA	.	stopgain	PCCA:NM_001127692:exon11:c.C859T:p.R287X,PCCA:NM_000282:exon12:c.C937T:p.R313X,PCCA:NM_001178004:exon12:c.C937T:p.R313X	13q32.3	.	rs138149179	.	.	.	.	.	.	0.000	D	1	A	.	.	.	.	.	.	.	13.805	43	0.998	0.935	D	.	.	.	.	0.732	0	4.67	-0.058	0.935	0.725	0.840	14.180	Deleterious (FATHMM)
1293	14	23415153	G	A	Pathogenic/Likely pathogenic	MYH7	.	.	.	.	.	.	.	.	.	.	14	23415153	23415153	G	A	exonic	MYH7	.	stopgain	MYH7:NM_000257:exon37:c.G5401T:p.E1801X	14q11.2	.	.	.	.	.	.	.	.	.	.	1	A	.	.	.	.	.	.	.	14.971	48	0.997	0.984	D	.	.	.	.	0.516	0	5.12	-0.006	0.066	0.941	0.680	18.752	Deleterious (FATHMM)
1294	14	23417174	C	T	Pathogenic/Likely pathogenic	MYH7|MHRT	.	.	.	.	.	.	.	.	.	.	14	23417174	23417174	C	T	exonic	MYH7	.	synonymous SNV	MYH7:NM_000257:exon32:c.C4498A:p.R1500R	14q11.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
1295	14	23418244	G	A	Pathogenic/Likely pathogenic	MYH7	.	.	.	.	.	.	.	.	.	.	14	23418244	23418244	G	A	exonic	MYH7	.	nonsynonymous SNV	MYH7:NM_000257:exon30:c.G4135T:p.A1379S	14q11.2	.	.	0.002	D	0.98	D	0.892	P	.	.	1	D	3.685	H	-1.2	T	-2.07	N	0.728	7.045	33	0.998	0.990	D	0.701	D	0.714	D	0.497	0	4.83	0.871	0.848	0.987	0.918	18.107	Deleterious
1296	14	23419993	G	A	Pathogenic/Likely pathogenic	MYH7	.	.	.	.	.	.	.	.	.	.	14	23419993	23419993	G	A	exonic	MYH7	.	nonsynonymous SNV	MYH7:NM_000257:exon27:c.G3578T:p.R1193L	14q11.2	.	.	0.0	D	1.0	D	1.0	D	.	.	1	D	4.075	H	-1.83	D	-5.01	D	0.891	7.445	34	0.999	0.958	D	0.989	D	0.859	D	0.516	0	5.1	0.871	0.848	1.000	0.997	18.716	Deleterious
1297	14	23420225	G	A	Pathogenic/Likely pathogenic	MYH7	.	.	.	.	.	.	.	.	.	.	14	23420225	23420225	G	A	exonic	MYH7	.	stopgain	MYH7:NM_000257:exon27:c.G3346T:p.E1116X	14q11.2	.	.	.	.	.	.	.	.	.	.	1	A	.	.	.	.	.	.	.	14.434	46	0.998	0.993	D	.	.	.	.	0.497	0	5.13	0.871	0.844	0.998	0.841	18.771	Deleterious (FATHMM)
1298	14	23422267	G	A	Pathogenic	MYH7	.	.	.	.	.	.	.	.	.	.	14	23422267	23422267	G	A	exonic	MYH7	.	nonsynonymous SNV	MYH7:NM_000257:exon25:c.G3158T:p.R1053L	14q11.2	.	.	0.001	D	1.0	D	0.998	D	.	.	1	D	3.675	H	-3.66	D	-5.4	D	0.935	7.900	35	0.999	0.980	D	1.087	D	0.939	D	0.497	0	4.64	0.871	0.917	1.000	0.994	18.045	Deleterious
1299	14	23424041	G	A	Pathogenic/Likely pathogenic	MYH7	.	.	.	.	.	.	.	.	.	.	14	23424041	23424041	G	A	exonic	MYH7	.	stopgain	MYH7:NM_000257:exon23:c.G2788T:p.E930X	14q11.2	.	.	.	.	.	.	.	.	.	.	1	A	.	.	.	.	.	.	.	13.889	43	0.998	0.984	D	.	.	.	.	0.554	0	5.55	0.871	0.917	1.000	0.999	19.698	Deleterious (FATHMM)
1300	14	23424059	G	A	Pathogenic/Likely pathogenic	MYH7	.	.	.	.	.	.	.	.	.	.	14	23424059	23424059	G	A	exonic	MYH7	.	stopgain	MYH7:NM_000257:exon23:c.G2770T:p.E924X	14q11.2	.	.	.	.	.	.	.	.	.	.	1	A	.	.	.	.	.	.	.	14.444	46	0.998	0.990	D	.	.	.	.	0.487	0	5.55	0.871	0.917	0.918	0.988	19.698	Deleterious (FATHMM)
1301	14	23424107	C	G	Pathogenic/Likely pathogenic	MYH7	.	.	.	.	.	.	.	.	.	.	14	23424107	23424107	C	G	exonic	MYH7	.	synonymous SNV	MYH7:NM_000257:exon23:c.C2722C:p.L908L	14q11.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
1302	14	23424112	A	G	Pathogenic	MYH7	.	.	.	.	.	.	.	.	.	.	14	23424112	23424112	A	G	exonic	MYH7	.	nonsynonymous SNV	MYH7:NM_000257:exon23:c.A2717C:p.D906A	14q11.2	.	.	0.003	D	0.265	B	0.297	B	.	.	1.000	D	0.98	L	-2.38	D	-4.21	D	0.551	4.493	24.3	0.993	0.988	D	0.074	D	0.600	D	0.554	0	5.55	0.991	1.040	1.000	0.997	15.861	Deleterious
1303	14	23424119	C	T	Pathogenic	MYH7	.	.	.	.	.	.	.	.	.	.	14	23424119	23424119	C	T	exonic	MYH7	.	nonsynonymous SNV	MYH7:NM_000257:exon23:c.C2710A:p.R904S	14q11.2	.	.	0.0	D	0.939	P	0.791	P	.	.	1.000	D	2.975	M	-3.22	D	-4.61	D	0.936	6.523	31	0.998	0.438	N	0.927	D	0.877	D	0.554	0	5.55	0.917	1.027	1.000	1.000	13.880	Deleterious
1304	14	23424839	G	A	Pathogenic/Likely pathogenic	MYH7	.	.	.	.	.	.	.	.	.	.	14	23424839	23424839	G	A	exonic	MYH7	.	nonsynonymous SNV	MYH7:NM_000257:exon22:c.G2609T:p.R870L	14q11.2	.	.	0.0	D	0.723	P	0.631	P	.	.	1.000	D	2.31	M	-1.48	T	-5.03	D	0.669	7.331	34	0.999	0.930	D	0.299	D	0.597	D	0.516	0	4.73	0.871	0.932	1.000	1.000	18.243	Deleterious
1305	14	23424935	C	T	Pathogenic	MYH7	.	.	.	.	.	.	.	.	.	.	14	23424935	23424935	C	T	exonic	MYH7	.	nonsynonymous SNV	MYH7:NM_000257:exon22:c.C2513A:p.P838Q	14q11.2	.	rs397516153	0.0	D	1.0	D	1.0	D	.	.	1	D	4.365	H	-3.17	D	-6.75	D	0.866	6.652	32	0.994	0.987	D	1.101	D	0.942	D	0.516	0	4.6	0.917	1.045	0.997	0.956	17.959	Deleterious
1306	14	23425316	G	A	Pathogenic/Likely pathogenic	MYH7	.	.	.	.	.	.	.	.	.	.	14	23425316	23425316	G	A	exonic	MYH7	.	nonsynonymous SNV	MYH7:NM_000257:exon21:c.G2389T:p.A797S	14q11.2	.	.	0.109	T	0.0	B	0.003	B	.	.	1	N	0.08	N	-2.99	D	-0.08	N	0.228	1.951	15.91	0.961	0.012	N	-0.597	T	0.489	T	0.554	0	0.747	0.109	0.224	0.948	0.979	9.84	Tolerated
1307	14	23425403	G	A	Pathogenic	MYH7	.	.	.	.	.	.	.	.	.	.	14	23425403	23425403	G	A	exonic	MYH7	.	nonsynonymous SNV	MYH7:NM_000257:exon21:c.G2302T:p.G768W	14q11.2	.	.	0.0	D	1.0	D	0.999	D	.	.	1	D	3.95	H	-3.87	D	-6.76	D	0.924	8.219	35	0.995	0.994	D	1.099	D	0.953	D	0.487	0	4.6	0.871	0.932	0.996	0.873	17.959	Deleterious
1308	14	23425760	G	A	Pathogenic/Likely pathogenic	MYH7	.	.	.	.	.	.	.	.	.	.	14	23425760	23425760	G	A	exonic	MYH7	.	nonsynonymous SNV	MYH7:NM_000257:exon20:c.G2221T:p.G741W	14q11.2	.	rs121913632	0.0	D	0.999	D	0.992	D	.	.	1	D	3.18	M	-3.67	D	-3.85	D	0.836	7.553	34	0.997	0.967	D	1.075	D	0.928	D	0.554	0	4.79	0.871	0.888	0.994	0.997	18.013	Deleterious
1309	14	23425760	G	C	Pathogenic/Likely pathogenic	MYH7	.	.	.	.	.	.	.	.	.	.	14	23425760	23425760	G	C	exonic	MYH7	.	synonymous SNV	MYH7:NM_000257:exon20:c.G2221G:p.G741G	14q11.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
1310	14	23425774	T	C	Pathogenic/Likely pathogenic	MYH7	.	.	.	.	.	.	.	.	.	.	14	23425774	23425774	T	C	exonic	MYH7	.	nonsynonymous SNV	MYH7:NM_000257:exon20:c.T2207G:p.I736S	14q11.2	.	.	0.0	D	1.0	D	0.999	D	.	.	1	D	1.385	L	-2.16	D	-4.51	D	0.879	5.337	25.8	0.996	0.988	D	0.495	D	0.703	D	0.487	0	4.88	1.062	1.194	1.000	1.000	14.652	Deleterious
1311	14	23425790	C	T	Pathogenic/Likely pathogenic	MYH7	.	.	.	.	.	.	.	.	.	.	14	23425790	23425790	C	T	exonic	MYH7	.	nonsynonymous SNV	MYH7:NM_000257:exon20:c.C2191A:p.P731T	14q11.2	.	.	0.0	D	1.0	D	1.0	D	.	.	1	D	3.755	H	-2.22	D	-6.86	D	0.62	5.677	26.7	0.998	0.997	D	0.986	D	0.864	D	0.487	0	4.88	0.917	1.045	1.000	0.999	18.221	Deleterious
1312	14	23425814	C	G	Pathogenic/Likely pathogenic	MYH7	.	.	.	.	.	.	.	.	.	.	14	23425814	23425814	C	G	exonic	MYH7	.	synonymous SNV	MYH7:NM_000257:exon20:c.C2167C:p.R723R	14q11.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
1313	14	23425814	C	T	Pathogenic/Likely pathogenic	MYH7	.	.	.	.	.	.	.	.	.	.	14	23425814	23425814	C	T	exonic	MYH7	.	nonsynonymous SNV	MYH7:NM_000257:exon20:c.C2167A:p.R723S	14q11.2	.	.	0.003	D	0.48	P	0.627	P	.	.	1.000	D	1.87	L	-2.21	D	-3.71	D	0.889	5.018	25.2	0.998	0.806	D	0.188	D	0.670	D	0.490	1	3.94	0.917	1.045	0.953	0.993	13.979	Deleterious
1314	14	23425970	G	A	Pathogenic/Likely pathogenic	MYH7	.	.	.	.	.	.	.	.	.	.	14	23425970	23425970	G	A	exonic	MYH7	.	nonsynonymous SNV	MYH7:NM_000257:exon19:c.G2156T:p.R719L	14q11.2	.	.	0.0	D	0.002	B	0.015	B	.	.	0.991	D	-0.4	N	-3.45	D	-4.46	D	0.581	6.289	29.1	0.996	0.707	D	-0.003	T	0.599	D	0.487	0	5.03	0.871	0.932	0.997	0.999	13.903	Deleterious
1315	14	23425971	C	T	Pathogenic	MYH7	.	.	.	.	.	.	.	.	.	.	14	23425971	23425971	C	T	exonic	MYH7	.	synonymous SNV	MYH7:NM_000257:exon19:c.C2155A:p.R719R	14q11.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
1316	14	23426833	G	A	Pathogenic/Likely pathogenic	MYH7	.	.	.	.	.	.	.	.	.	.	14	23426833	23426833	G	A	exonic	MYH7	.	nonsynonymous SNV	MYH7:NM_000257:exon18:c.G1988T:p.R663L	14q11.2	.	.	0.0	D	0.255	B	0.476	P	.	.	1.000	D	2.64	M	-2.33	D	-5.35	D	0.802	7.499	34	0.998	0.983	D	0.570	D	0.737	D	0.487	0	3.98	0.871	0.848	0.997	1.000	15.196	Deleterious
1317	14	23426834	C	T	Pathogenic/Likely pathogenic	MYH7	.	.	.	.	.	.	.	.	.	.	14	23426834	23426834	C	T	exonic	MYH7	.	nonsynonymous SNV	MYH7:NM_000257:exon18:c.C1987A:p.R663S	14q11.2	.	.	0.0	D	0.292	B	0.67	P	.	.	1.000	D	1.82	L	-2.22	D	-4.31	D	0.858	6.848	33	0.998	0.876	D	0.543	D	0.742	D	0.487	0	4.89	0.917	0.949	0.996	1.000	18.236	Deleterious
1318	14	23427242	A	G	Pathogenic/Likely pathogenic	MYH7	.	.	.	.	.	.	.	.	.	.	14	23427242	23427242	A	G	exonic	MYH7	.	synonymous SNV	MYH7:NM_000257:exon17:c.A1954C:p.R652R	14q11.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
1319	14	23427657	G	A	Pathogenic/Likely pathogenic	MYH7	.	.	.	.	.	.	.	.	.	.	14	23427657	23427657	G	A	exonic	MYH7	.	nonsynonymous SNV	MYH7:NM_000257:exon16:c.G1816T:p.V606L	14q11.2	.	.	0.02	D	0.007	B	0.058	B	.	.	1.000	D	2.05	M	-2.21	D	-2.64	D	0.73	5.266	25.7	0.988	0.971	D	0.056	D	0.599	D	0.487	0	5.13	0.868	0.931	0.771	0.957	14.149	Deleterious
1320	14	23427723	G	C	Pathogenic/Likely pathogenic	MYH7	.	.	.	.	.	.	.	.	.	.	14	23427723	23427723	G	C	exonic	MYH7	.	synonymous SNV	MYH7:NM_000257:exon16:c.G1750G:p.G584G	14q11.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
1321	14	23429004	G	A	Pathogenic/Likely pathogenic	MYH7	.	.	.	.	.	.	.	.	.	.	14	23429004	23429004	G	A	exonic	MYH7	.	nonsynonymous SNV	MYH7:NM_000257:exon14:c.G1358T:p.R453L	14q11.2	.	.	0.0	D	0.999	D	0.999	D	.	.	1	D	3.455	M	-2.26	D	-6.27	D	0.943	7.731	35	0.999	0.975	D	0.942	D	0.841	D	0.516	0	4.18	0.871	0.847	1.000	1.000	16.686	Deleterious
1322	14	23429005	C	T	Pathogenic/Likely pathogenic	MYH7	.	.	.	.	.	.	.	.	.	.	14	23429005	23429005	C	T	exonic	MYH7	.	nonsynonymous SNV	MYH7:NM_000257:exon14:c.C1357A:p.R453S	14q11.2	.	rs121913625	0.0	D	1.0	D	1.0	D	.	.	1.000	D	1.705	L	-2.2	D	-5.37	D	0.943	6.545	31	0.998	0.612	D	0.484	D	0.710	D	0.516	0	4.18	0.917	0.948	1.000	1.000	11.531	Deleterious
1323	14	23429278	G	A	Pathogenic	MYH7	.	.	.	.	.	.	.	.	.	.	14	23429278	23429278	G	A	exonic	MYH7	.	nonsynonymous SNV	MYH7:NM_000257:exon13:c.G1208T:p.R403L	14q11.2	.	rs121913624	0.0	D	0.999	D	0.999	D	.	.	1.000	D	3.565	H	-2.33	D	-6.13	D	0.996	6.981	33	0.999	0.992	D	0.959	D	0.845	D	0.487	0	4.04	0.871	0.847	0.940	0.983	16.373	Deleterious
1324	14	23429279	C	T	Pathogenic/Likely pathogenic	MYH7	.	.	.	.	.	.	.	.	.	.	14	23429279	23429279	C	T	exonic	MYH7	.	synonymous SNV	MYH7:NM_000257:exon13:c.C1207A:p.R403R	14q11.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
1325	14	23429807	G	A	Pathogenic/Likely pathogenic	MYH7	.	.	.	.	.	.	.	.	.	.	14	23429807	23429807	G	A	exonic	MYH7	.	nonsynonymous SNV	MYH7:NM_000257:exon12:c.G1106T:p.R369L	14q11.2	.	.	0.0	D	0.028	B	0.196	B	.	.	1.000	D	3.73	H	-2.28	D	-6.08	D	0.833	7.533	34	0.998	0.975	D	0.686	D	0.773	D	0.487	0	3.94	0.787	0.766	0.980	0.998	16.150	Deleterious
1326	14	23429901	G	A	Pathogenic/Likely pathogenic	MYH7	.	.	.	.	.	.	.	.	.	.	14	23429901	23429901	G	A	exonic	MYH7	.	nonsynonymous SNV	MYH7:NM_000257:exon12:c.G1012T:p.V338L	14q11.2	.	.	0.007	D	0.001	B	0.019	B	.	.	1.000	D	2.18	M	-3.69	D	-1.43	N	0.566	3.315	22.9	0.989	0.632	D	0.596	D	0.802	D	0.487	0	4.04	0.868	0.850	0.997	0.833	9.959	Deleterious
1327	14	23430954	G	C	Pathogenic	MYH7	.	.	.	.	.	.	.	.	.	.	14	23430954	23430954	G	C	exonic	MYH7	.	synonymous SNV	MYH7:NM_000257:exon10:c.G842G:p.R281R	14q11.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
1328	14	23431426	T	C	Pathogenic/Likely pathogenic	MYH7	.	.	.	.	.	.	.	.	.	.	14	23431426	23431426	T	C	exonic	MYH7	.	nonsynonymous SNV	MYH7:NM_000257:exon9:c.T788G:p.I263R	14q11.2	.	.	0.0	D	0.516	P	0.793	P	.	.	1	D	4.725	H	-2.88	D	-5.71	D	0.958	4.985	25.1	0.983	0.996	D	1.048	D	0.926	D	0.497	0	3.47	0.960	1.032	0.998	1.000	12.414	Deleterious
1329	14	23431447	G	A	Pathogenic	MYH7	.	.	.	.	.	.	.	.	.	.	14	23431447	23431447	G	A	exonic	MYH7	.	nonsynonymous SNV	MYH7:NM_000257:exon9:c.G767T:p.G256V	14q11.2	.	.	0.0	D	0.996	D	0.995	D	.	.	1	D	4.355	H	-4.04	D	-7.1	D	0.946	5.282	25.7	0.997	0.989	D	1.083	D	0.963	D	0.497	0	3.47	0.791	0.810	0.998	0.996	15.488	Deleterious
1330	14	23431468	G	A	Pathogenic/Likely pathogenic	MYH7	.	.	.	.	.	.	.	.	.	.	14	23431468	23431468	G	A	exonic	MYH7	.	nonsynonymous SNV	MYH7:NM_000257:exon9:c.G746T:p.R249L	14q11.2	.	.	0.0	D	0.896	P	0.877	P	.	.	1	D	3.95	H	-3.71	D	-5.7	D	0.892	6.124	28.3	0.998	0.989	D	1.105	D	0.943	D	0.497	0	3.47	0.791	0.810	0.996	0.991	15.488	Deleterious
1331	14	23431584	G	A	Pathogenic/Likely pathogenic	MYH7	.	.	.	.	.	.	.	.	.	.	14	23431584	23431584	G	A	splicing	MYH7	NM_000257:exon8:c.732+1C>T	.	.	14q11.2	.	.	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	5.200	25.5	0.994	0.964	D	.	.	.	.	0.054	0	3.47	0.791	0.810	0.980	0.884	15.488	Deleterious (FATHMM)
1332	14	23431804	C	T	Pathogenic/Likely pathogenic	MYH7	.	.	.	.	.	.	.	.	.	.	14	23431804	23431804	C	T	exonic	MYH7	.	nonsynonymous SNV	MYH7:NM_000257:exon7:c.C596A:p.A199E	14q11.2	.	.	0.0	D	0.998	D	0.993	D	.	.	1	D	2.79	M	-2.25	D	-3.49	D	0.893	5.932	27.6	0.994	0.967	D	0.782	D	0.790	D	0.549	0	3.12	0.830	0.804	0.995	0.987	14.718	Deleterious
1333	14	23432703	G	T	Pathogenic/Likely pathogenic	MYH7	.	.	.	.	.	.	.	.	.	.	14	23432703	23432703	G	T	exonic	MYH7	.	synonymous SNV	MYH7:NM_000257:exon5:c.G438A:p.K146K	14q11.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
1334	14	23432713	G	A	Pathogenic/Likely pathogenic	MYH7	.	.	.	.	.	.	.	.	.	.	14	23432713	23432713	G	A	exonic	MYH7	.	nonsynonymous SNV	MYH7:NM_000257:exon5:c.G428T:p.R143L	14q11.2	.	.	0.001	D	0.717	P	0.589	P	.	.	1.000	D	2.625	M	-2.32	D	-4.65	D	0.927	6.145	28.4	0.998	0.983	D	0.656	D	0.721	D	0.497	0	3.61	0.791	0.763	0.997	0.862	15.807	Deleterious
1335	14	28767840	C	A	Pathogenic	FOXG1	.	.	.	.	.	.	.	.	.	.	14	28767840	28767840	C	A	exonic	FOXG1	.	nonsynonymous SNV	FOXG1:NM_005249:exon1:c.C561A:p.N187K	14q12	.	rs796052462	0.007	D	1.0	D	1.0	D	0.000	U	1.000	D	1.24	L	-3.68	D	-5.17	D	0.435	5.397	26.0	0.997	0.942	D	0.585	D	0.816	D	0.598	0	1.81	-0.024	0.721	0.994	0.997	8.157	Deleterious
1336	14	31599308	T	C	Pathogenic/Likely pathogenic	NUBPL	.	.	.	.	.	.	.	.	.	.	14	31599308	31599308	T	C	exonic	NUBPL	.	nonsynonymous SNV	NUBPL:NM_001201573:exon2:c.T23C:p.L8P,NUBPL:NM_025152:exon4:c.T311C:p.L104P	14q12	8.5e-05	rs201430951	0.0	D	1.0	D	1.0	D	0.000	D	1	D	3.505	H	0.72	T	-6.52	D	0.986	6.240	28.9	0.999	0.925	D	0.008	D	0.401	T	0.706	0	5.4	0.991	1.011	0.995	0.982	13.655	Tolerated
1337	14	31850092	T	C	Pathogenic	NUBPL	.	.	.	.	.	.	.	.	.	.	14	31850092	31850092	T	C	intronic	NUBPL	.	.	.	14q12	0.0035	rs118161496	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	probably Tolerated (Intron)
1338	14	50613343	C	T	Pathogenic	ATL1	.	.	.	.	.	.	.	.	.	.	14	50613343	50613343	C	T	exonic	ATL1	.	nonsynonymous SNV	ATL1:NM_015915:exon7:c.C715T:p.R239C,ATL1:NM_181598:exon7:c.C715T:p.R239C,ATL1:NM_001127713:exon8:c.C715T:p.R239C	14q22.1	.	rs119476046	0.037	D	0.764	P	0.342	B	0.000	N	1	A	2.405	M	0.08	T	-7.39	D	0.973	5.892	27.4	0.998	0.916	D	-0.474	T	0.203	T	0.615	0	4.38	-0.058	0.935	0.975	1.000	7.821	Tolerated
1339	14	50614406	G	A	Pathogenic/Likely pathogenic	ATL1	.	.	.	.	.	.	.	.	.	.	14	50614406	50614406	G	A	exonic	ATL1	.	nonsynonymous SNV	ATL1:NM_015915:exon8:c.G757A:p.V253I,ATL1:NM_181598:exon8:c.G757A:p.V253I,ATL1:NM_001127713:exon9:c.G757A:p.V253I	14q22.1	.	rs864622520	0.007	D	0.646	P	0.569	P	0.000	D	1	D	2.01	M	0.16	T	-0.21	N	0.797	3.058	22.4	0.998	0.996	D	-0.519	T	0.304	T	0.615	0	5.63	0.917	1.048	0.978	0.982	19.027	Tolerated
1340	14	50628394	C	T	Pathogenic	ATL1	.	.	.	.	.	.	.	.	.	.	14	50628394	50628394	C	T	exonic	ATL1	.	nonsynonymous SNV	ATL1:NM_015915:exon12:c.C1483T:p.R495W,ATL1:NM_181598:exon12:c.C1483T:p.R495W,ATL1:NM_001127713:exon13:c.C1483T:p.R495W	14q22.1	.	rs864622269	0.0	D	1.0	D	0.998	D	0.000	D	1	D	2.435	M	-3.01	D	-7.27	D	0.988	7.430	34	0.999	0.914	D	0.827	D	0.849	D	0.651	0	4.73	0.871	0.935	0.999	0.997	11.635	Deleterious
1341	14	74494329	G	A	Pathogenic/Likely pathogenic	ISCA2	.	.	.	.	.	.	.	.	.	.	14	74494329	74494329	G	A	exonic	ISCA2	.	nonsynonymous SNV	ISCA2:NM_194279:exon3:c.G229A:p.G77S	14q24.3	.	rs730882246	0.0	D	1.0	D	1.0	D	0.000	D	1	D	2.09	M	.	.	-5.98	D	0.762	7.185	34	0.999	0.961	D	-0.143	T	0.436	T	0.628	0	5.28	0.917	1.048	1.000	1.000	19.093	Tolerated
1342	14	75005867	G	T	Pathogenic/Likely pathogenic	EIF2B2	.	.	.	.	.	.	.	.	.	.	14	75005867	75005867	G	T	exonic	EIF2B2	.	nonsynonymous SNV	EIF2B2:NM_014239:exon5:c.G599T:p.G200V	14q24.3	0.0004	rs113994012	0.0	D	1.0	D	0.999	D	0.000	D	1	D	3.385	M	-4.37	D	-8.88	D	0.993	6.924	33	0.998	0.997	D	1.091	D	0.964	D	0.722	0	5.53	0.917	1.048	0.990	0.989	19.656	Deleterious
1343	14	77278764	A	G	Pathogenic/Likely pathogenic	POMT2	.	.	.	.	.	.	.	.	.	.	14	77278764	77278764	A	G	exonic	POMT2	.	nonsynonymous SNV	POMT2:NM_013382:exon19:c.A1997C:p.Y666S	14q24.3	.	.	0.0	D	1.0	D	1.0	D	0.000	D	1	D	3.435	M	-4.33	D	-7.69	D	0.932	6.629	32	0.994	0.958	D	1.101	D	0.961	D	0.732	0	5.68	0.899	1.011	1.000	1.000	15.915	Deleterious
1344	14	77285548	C	T	Pathogenic	POMT2	.	.	.	.	.	.	.	.	.	.	14	77285548	77285548	C	T	exonic	POMT2	.	synonymous SNV	POMT2:NM_013382:exon13:c.C1417A:p.R473R	14q24.3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
1345	14	87941529	A	C	Pathogenic/Likely pathogenic	GALC	.	.	.	.	.	.	.	.	.	.	14	87941529	87941529	A	C	exonic	GALC	.	nonsynonymous SNV	GALC:NM_001201401:exon14:c.A1631G:p.Y544C,GALC:NM_000153:exon15:c.A1700G:p.Y567C,GALC:NM_001201402:exon15:c.A1622G:p.Y541C	14q31.3	.	.	0.042	D	0.999	D	0.985	D	0.000	D	1.000	D	2.36	M	-3.61	D	-4.06	D	0.686	3.152	22.6	0.998	0.927	D	0.908	D	0.891	D	0.706	0	4.57	0.991	1.011	0.993	0.998	12.180	Deleterious
1346	14	87968386	G	A	Pathogenic/Likely pathogenic	GALC	.	.	.	.	.	.	.	.	.	.	14	87968386	87968386	G	A	exonic	GALC	.	nonsynonymous SNV	GALC:NM_001201401:exon7:c.G788T:p.G263V,GALC:NM_000153:exon8:c.G857T:p.G286V,GALC:NM_001201402:exon8:c.G779T:p.G260V	14q31.3	.	.	0.107	T	1.0	D	0.992	D	0.000	D	1	D	2.635	M	-3.79	D	-5.68	D	0.968	6.758	32	0.997	0.975	D	1.036	D	0.923	D	0.693	0	4.68	0.871	0.892	0.962	0.970	16.727	Deleterious
1347	14	94378610	G	A	Pathogenic, other	SERPINA1	.	.	.	.	.	.	.	.	.	.	14	94378610	94378610	G	A	exonic	SERPINA1	.	stopgain	SERPINA1:NM_000295:exon5:c.G1096T:p.E366X,SERPINA1:NM_001002235:exon5:c.G1096T:p.E366X,SERPINA1:NM_001127700:exon5:c.G1096T:p.E366X,SERPINA1:NM_001127702:exon6:c.G1096T:p.E366X,SERPINA1:NM_001127706:exon6:c.G1096T:p.E366X,SERPINA1:NM_001127707:exon6:c.G1096T:p.E366X,SERPINA1:NM_001002236:exon7:c.G1096T:p.E366X,SERPINA1:NM_001127701:exon7:c.G1096T:p.E366X,SERPINA1:NM_001127703:exon7:c.G1096T:p.E366X,SERPINA1:NM_001127704:exon7:c.G1096T:p.E366X,SERPINA1:NM_001127705:exon7:c.G1096T:p.E366X	14q32.13	.	.	.	.	.	.	.	.	0.008	N	1	D	.	.	.	.	.	.	.	9.983	36	0.991	0.931	D	.	.	.	.	0.516	0	2.95	0.871	0.935	0.913	0.694	8.489	Deleterious (FATHMM)
1348	14	94380925	A	T	Pathogenic, not provided, other	SERPINA1	.	.	.	.	.	.	.	.	.	.	14	94380925	94380925	A	T	exonic	SERPINA1	.	synonymous SNV	SERPINA1:NM_000295:exon3:c.A863A:p.E288E,SERPINA1:NM_001002235:exon3:c.A863A:p.E288E,SERPINA1:NM_001127700:exon3:c.A863A:p.E288E,SERPINA1:NM_001127702:exon4:c.A863A:p.E288E,SERPINA1:NM_001127706:exon4:c.A863A:p.E288E,SERPINA1:NM_001127707:exon4:c.A863A:p.E288E,SERPINA1:NM_001002236:exon5:c.A863A:p.E288E,SERPINA1:NM_001127701:exon5:c.A863A:p.E288E,SERPINA1:NM_001127703:exon5:c.A863A:p.E288E,SERPINA1:NM_001127704:exon5:c.A863A:p.E288E,SERPINA1:NM_001127705:exon5:c.A863A:p.E288E	14q32.13	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
1349	14	95096166	C	G	Pathogenic	DICER1	.	.	.	.	.	.	.	.	.	.	14	95096166	95096166	C	G	exonic	DICER1	.	synonymous SNV	DICER1:NM_001195573:exon22:c.C4754C:p.S1585S,DICER1:NM_001271282:exon23:c.C4754C:p.S1585S,DICER1:NM_001291628:exon23:c.C4754C:p.S1585S,DICER1:NM_177438:exon23:c.C4754C:p.S1585S,DICER1:NM_030621:exon25:c.C4754C:p.S1585S	14q32.13	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
1350	14	95112226	C	T	Pathogenic	DICER1	.	.	.	.	.	.	.	.	.	.	14	95112226	95112226	C	T	exonic	DICER1	.	synonymous SNV	DICER1:NM_001195573:exon12:c.C2062A:p.R688R,DICER1:NM_001271282:exon13:c.C2062A:p.R688R,DICER1:NM_001291628:exon13:c.C2062A:p.R688R,DICER1:NM_177438:exon13:c.C2062A:p.R688R,DICER1:NM_030621:exon15:c.C2062A:p.R688R	14q32.13	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
1351	14	95113106	C	T	Pathogenic	DICER1	.	.	.	.	.	.	.	.	.	.	14	95113106	95113106	C	T	exonic	DICER1	.	synonymous SNV	DICER1:NM_001195573:exon11:c.C2026A:p.R676R,DICER1:NM_001271282:exon12:c.C2026A:p.R676R,DICER1:NM_001291628:exon12:c.C2026A:p.R676R,DICER1:NM_177438:exon12:c.C2026A:p.R676R,DICER1:NM_030621:exon14:c.C2026A:p.R676R	14q32.13	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
1352	14	95130072	C	T	Pathogenic	DICER1	.	.	.	.	.	.	.	.	.	.	14	95130072	95130072	C	T	exonic	DICER1	.	synonymous SNV	DICER1:NM_001195573:exon4:c.C559A:p.R187R,DICER1:NM_001271282:exon5:c.C559A:p.R187R,DICER1:NM_001291628:exon5:c.C559A:p.R187R,DICER1:NM_177438:exon5:c.C559A:p.R187R,DICER1:NM_030621:exon7:c.C559A:p.R187R	14q32.13	.	rs763801533	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
1353	14	96876033	C	T	Pathogenic	VRK1	.	.	.	.	.	.	.	.	.	.	14	96876033	96876033	C	T	exonic	VRK1	.	stopgain	VRK1:NM_003384:exon12:c.C1072T:p.R358X	14q32.2	7.7e-05	rs137853063	.	.	.	.	.	.	0.001	D	1	A	.	.	.	.	.	.	.	12.208	38	0.996	0.642	D	.	.	.	.	0.732	0	-1.18	0.871	0.038	0.995	0.979	15.587	Deleterious (FATHMM)
1354	14	101986017	C	T	Pathogenic/Likely pathogenic	DYNC1H1	.	.	.	.	.	.	.	.	.	.	14	101986017	101986017	C	T	exonic	DYNC1H1	.	nonsynonymous SNV	DYNC1H1:NM_001376:exon8:c.C1792T:p.R598C	14q32.31	.	rs587780564	0.0	D	1.0	D	0.994	D	0.000	D	1	D	3.425	M	0.18	T	-7.03	D	0.914	7.198	34	0.999	0.960	D	0.145	D	0.494	T	0.707	0	5.85	0.871	0.932	0.999	0.997	15.729	Tolerated
1355	14	102002694	G	A	Pathogenic	DYNC1H1	.	.	.	.	.	.	.	.	.	.	14	102002694	102002694	G	A	exonic	DYNC1H1	.	nonsynonymous SNV	DYNC1H1:NM_001376:exon22:c.G4700A:p.R1567Q	14q32.31	.	rs797044901	0.001	D	1.0	D	0.991	D	0.000	D	1	D	2.995	M	0.02	T	-3.77	D	0.726	7.576	34	1.000	0.999	D	0.108	D	0.487	T	0.707	0	4.88	0.917	1.048	0.939	0.998	14.546	Tolerated
1356	15	23644619	C	T	Pathogenic	MAGEL2	.	.	.	.	.	.	.	.	.	.	15	23644619	23644619	C	T	exonic	MAGEL2	.	nonsynonymous SNV	MAGEL2:NM_019066:exon1:c.C3124A:p.Q1042K	15q11.2	.	.	.	.	0.0	B	0.004	B	.	.	0.999	N	-1.21	N	.	.	.	.	0.056	0.873	9.904	0.768	0.178	N	.	.	.	.	0.646	0	3.45	-0.033	-0.004	0.507	0.521	7.738
1357	15	23645831	C	T	Pathogenic/Likely pathogenic	MAGEL2	.	.	.	.	.	.	.	.	.	.	15	23645831	23645831	C	T	exonic	MAGEL2	.	nonsynonymous SNV	MAGEL2:NM_019066:exon1:c.C1912A:p.Q638K	15q11.2	.	.	.	.	0.608	P	0.143	B	.	.	1.000	N	1.5	L	.	.	.	.	0.139	1.909	15.64	0.981	0.818	D	.	.	.	.	0.487	0	3.43	0.893	0.874	0.129	0.818	6.801	Deleterious (FATHMM)
1358	15	27983340	G	A	Pathogenic	OCA2	.	.	.	.	.	.	.	.	.	.	15	27983340	27983340	G	A	intronic	OCA2	.	.	.	15q13.1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	probably Tolerated (Intron)
1359	15	27985101	G	A	Pathogenic	OCA2	.	.	.	.	.	.	.	.	.	.	15	27985101	27985101	G	A	exonic	OCA2	.	nonsynonymous SNV	OCA2:NM_001300984:exon12:c.G1255T:p.V419F,OCA2:NM_000275:exon13:c.G1327T:p.V443F	15q13.1	.	.	0.001	D	1.0	D	1.0	D	0.000	D	1	D	3.465	M	-1.34	T	-4.94	D	0.975	7.700	35	0.996	0.978	D	0.746	D	0.762	D	0.500	0	5.2	0.871	0.935	0.995	0.867	18.094	Deleterious
1360	15	34793398	G	A	Pathogenic/Likely pathogenic	ACTC1|LOC101928174	.	.	.	.	.	.	.	.	.	.	15	34793398	34793398	G	A	exonic	ACTC1	.	stopgain	ACTC1:NM_005159:exon3:c.G301T:p.E101X	15q14	.	.	.	.	.	.	.	.	0.000	U	1	A	.	.	.	.	.	.	.	13.323	41	0.998	0.962	D	.	.	.	.	0.635	0	5.63	0.871	0.935	0.997	0.982	20.044	Deleterious (FATHMM)
1361	15	40410699	G	A	Pathogenic/Likely pathogenic	IVD	.	.	.	.	.	.	.	.	.	.	15	40410699	40410699	G	A	exonic	IVD	.	nonsynonymous SNV	IVD:NM_001159508:exon3:c.G277A:p.G93R,IVD:NM_002225:exon4:c.G367A:p.G123R	15q15.1	7.7e-05	rs142761835	0.001	D	1.0	D	0.999	D	0.008	N	1.000	D	2.95	M	-6.52	D	-5.04	D	0.89	6.886	33	0.999	0.994	D	1.001	D	0.990	D	0.707	0	5.07	0.917	1.048	0.881	0.363	18.638	Deleterious
1362	15	40415454	C	T	Pathogenic	IVD	.	.	.	.	.	.	.	.	.	.	15	40415454	40415454	C	T	exonic	IVD	.	nonsynonymous SNV	IVD:NM_001159508:exon8:c.C851T:p.A284V,IVD:NM_002225:exon9:c.C941T:p.A314V	15q15.1	0.0007	rs28940889	0.009	D	0.973	D	0.846	P	0.000	D	1	A	2.16	M	-3.92	D	-1.4	N	0.924	7.050	33	0.999	0.962	D	-0.341	T	0.395	T	0.707	0	5.38	0.871	0.892	1.000	1.000	19.134	Tolerated
1363	15	42359950	C	T	Pathogenic/Likely pathogenic	CAPN3	.	.	.	.	.	.	.	.	.	.	15	42359950	42359950	C	T	exonic	CAPN3	.	nonsynonymous SNV	CAPN3:NM_000070:exon1:c.C145T:p.R49C,CAPN3:NM_024344:exon1:c.C145T:p.R49C,CAPN3:NM_173087:exon1:c.C145T:p.R49C	15q15.1	.	rs794726871	0.001	D	1.0	D	0.999	D	0.002	U	1	D	0.805	L	-4.4	D	-2.0	N	0.954	7.454	34	0.999	0.928	D	0.955	D	0.895	D	0.554	0	5.01	0.871	0.935	0.999	1.000	13.837	Deleterious
1364	15	42389944	G	A	Pathogenic/Likely pathogenic	CAPN3	.	.	.	.	.	.	.	.	.	.	15	42389944	42389944	G	A	intronic	CAPN3	.	.	.	15q15.1	.	rs761211705	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	probably Tolerated (Intron)
1365	15	42399483	A	G	Pathogenic	CAPN3	.	.	.	.	.	.	.	.	.	.	15	42399483	42399483	A	G	intronic	CAPN3	.	.	.	15q15.1	7.7e-05	rs374665929	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	probably Tolerated (Intron)
1366	15	42399617	G	A	Pathogenic	CAPN3	.	.	.	.	.	.	.	.	.	.	15	42399617	42399617	G	A	exonic	CAPN3	.	nonsynonymous SNV	CAPN3:NM_173087:exon9:c.G1175A:p.R392Q,CAPN3:NM_000070:exon10:c.G1319A:p.R440Q,CAPN3:NM_024344:exon10:c.G1319A:p.R440Q	15q15.1	7.7e-05	rs376107921	0.009	D	1.0	D	0.979	D	0.000	U	1.000	D	2.54	M	-2.3	D	-3.32	D	0.888	7.346	34	1.000	0.985	D	0.645	D	0.772	D	0.638	0	5.37	0.917	1.048	0.992	0.997	12.599	Deleterious
1367	15	42399640	C	T	Pathogenic	CAPN3	.	.	.	.	.	.	.	.	.	.	15	42399640	42399640	C	T	exonic	CAPN3	.	nonsynonymous SNV	CAPN3:NM_173087:exon9:c.C1198T:p.R400C,CAPN3:NM_000070:exon10:c.C1342T:p.R448C,CAPN3:NM_024344:exon10:c.C1342T:p.R448C	15q15.1	.	rs776043976	0.0	D	1.0	D	1.0	D	0.000	U	1	D	3.52	H	-2.5	D	-7.46	D	0.973	8.050	35	0.999	0.962	D	0.931	D	0.865	D	0.638	0	5.37	0.871	0.935	0.999	0.998	14.184	Deleterious
1368	15	42399641	G	A	Pathogenic	CAPN3	.	.	.	.	.	.	.	.	.	.	15	42399641	42399641	G	A	exonic	CAPN3	.	nonsynonymous SNV	CAPN3:NM_173087:exon9:c.G1199A:p.R400H,CAPN3:NM_000070:exon10:c.G1343A:p.R448H,CAPN3:NM_024344:exon10:c.G1343A:p.R448H	15q15.1	.	rs863224956	0.001	D	1.0	D	0.999	D	0.000	U	1	D	2.83	M	-2.44	D	-4.59	D	0.958	7.719	35	1.000	0.995	D	0.868	D	0.851	D	0.638	0	5.37	0.917	1.048	0.998	0.998	19.314	Deleterious
1369	15	42401751	C	T	Pathogenic	CAPN3	.	.	.	.	.	.	.	.	.	.	15	42401751	42401751	C	T	exonic	CAPN3	.	nonsynonymous SNV	CAPN3:NM_173087:exon10:c.C1321T:p.R441W,CAPN3:NM_000070:exon11:c.C1465T:p.R489W,CAPN3:NM_024344:exon11:c.C1465T:p.R489W	15q15.1	.	rs863224957	0.119	T	1.0	D	1.0	D	0.000	U	1	D	2.425	M	-2.43	D	-7.45	D	0.969	5.394	26.0	0.998	0.768	D	0.546	D	0.779	D	0.646	1	-0.179	-0.058	-0.008	0.981	0.995	13.878	Deleterious
1370	15	42401754	C	T	Pathogenic	CAPN3	.	.	.	.	.	.	.	.	.	.	15	42401754	42401754	C	T	exonic	CAPN3	.	nonsynonymous SNV	CAPN3:NM_173087:exon10:c.C1324T:p.R442W,CAPN3:NM_000070:exon11:c.C1468T:p.R490W,CAPN3:NM_024344:exon11:c.C1468T:p.R490W	15q15.1	7.7e-05	rs141656719	0.0	D	1.0	D	1.0	D	0.000	U	1	D	3.715	H	-2.74	D	-7.7	D	0.973	6.279	29.0	0.998	0.471	N	0.903	D	0.876	D	0.495	0	-3.67	-0.058	-0.008	0.985	0.990	18.419	Deleterious
1371	15	42401755	G	A	Pathogenic	CAPN3	.	.	.	.	.	.	.	.	.	.	15	42401755	42401755	G	A	exonic	CAPN3	.	nonsynonymous SNV	CAPN3:NM_173087:exon10:c.G1325A:p.R442Q,CAPN3:NM_000070:exon11:c.G1469A:p.R490Q,CAPN3:NM_024344:exon11:c.G1469A:p.R490Q	15q15.1	.	rs121434548	0.001	D	1.0	D	1.0	D	0.000	U	1	A	3.715	H	-2.67	D	-3.84	D	0.97	7.207	34	1.000	0.976	D	1.044	D	0.897	D	0.495	0	4.69	0.917	0.953	0.986	0.991	17.811	Deleterious
1372	15	42402971	C	T	Pathogenic	CAPN3	.	.	.	.	.	.	.	.	.	.	15	42402971	42402971	C	T	exonic	CAPN3	.	nonsynonymous SNV	CAPN3:NM_173088:exon2:c.C178T:p.R60W,CAPN3:NM_173087:exon12:c.C1570T:p.R524W,CAPN3:NM_000070:exon13:c.C1714T:p.R572W,CAPN3:NM_024344:exon13:c.C1714T:p.R572W	15q15.1	.	rs863224959	0.0	D	1.0	D	1.0	D	0.000	U	1	D	3.875	H	-2.66	D	-7.44	D	0.997	7.479	34	0.999	0.795	D	0.996	D	0.892	D	0.615	0	4.03	0.871	0.935	0.999	0.998	12.687	Deleterious
1373	15	42402972	G	A	Pathogenic	CAPN3	.	.	.	.	.	.	.	.	.	.	15	42402972	42402972	G	A	exonic	CAPN3	.	nonsynonymous SNV	CAPN3:NM_173088:exon2:c.G179A:p.R60Q,CAPN3:NM_173087:exon12:c.G1571A:p.R524Q,CAPN3:NM_000070:exon13:c.G1715A:p.R572Q,CAPN3:NM_024344:exon13:c.G1715A:p.R572Q	15q15.1	.	rs121434544	0.001	D	1.0	D	1.0	D	0.000	U	1	A	3.325	M	-2.61	D	-3.72	D	0.988	7.573	34	1.000	0.965	D	0.958	D	0.867	D	0.615	0	4.97	0.917	1.048	0.999	0.997	18.414	Deleterious
1374	15	42409381	G	T	Pathogenic	CAPN3	.	.	.	.	.	.	.	.	.	.	15	42409381	42409381	G	T	splicing	CAPN3	NM_000070:exon17:c.1992+1G>T,NM_173087:exon14:c.1716+1G>T,NM_024344:exon16:c.1974+1G>T,NM_173088:exon6:c.456+1G>T	.	.	15q15.1	.	rs863224961	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	5.106	25.3	0.994	0.988	D	.	.	.	.	0.162	0	5.05	0.917	0.953	0.925	0.774	18.609	Deleterious (FATHMM)
1375	15	42410646	G	A	Pathogenic	CAPN3	.	.	.	.	.	.	.	.	.	.	15	42410646	42410646	G	A	exonic	CAPN3	.	nonsynonymous SNV	CAPN3:NM_173089:exon6:c.G248A:p.R83Q,CAPN3:NM_173090:exon7:c.G248A:p.R83Q,CAPN3:NM_173088:exon10:c.G707A:p.R236Q,CAPN3:NM_173087:exon18:c.G1967A:p.R656Q,CAPN3:NM_024344:exon20:c.G2225A:p.R742Q,CAPN3:NM_000070:exon21:c.G2243A:p.R748Q	15q15.1	.	rs587780290	0.007	D	1.0	D	1.0	D	0.000	U	1	D	1.985	M	-0.1	T	-2.95	D	0.966	7.724	35	0.999	0.976	D	-0.028	T	0.457	T	0.660	0	4.54	0.917	0.953	1.000	1.000	17.503	Tolerated
1376	15	42410958	G	C	Pathogenic	CAPN3	.	.	.	.	.	.	.	.	.	.	15	42410958	42410958	G	C	exonic	CAPN3	.	nonsynonymous SNV	CAPN3:NM_173089:exon7:c.G343C:p.D115H,CAPN3:NM_173090:exon8:c.G343C:p.D115H,CAPN3:NM_173088:exon11:c.G802C:p.D268H,CAPN3:NM_173087:exon19:c.G2062C:p.D688H,CAPN3:NM_024344:exon21:c.G2320C:p.D774H,CAPN3:NM_000070:exon22:c.G2338C:p.D780H	15q15.1	.	rs778768583	0.0	D	1.0	D	1.0	D	0.000	U	1	D	3.215	M	-3.79	D	-5.97	D	0.965	6.590	31	0.996	0.968	D	1.077	D	0.943	D	0.660	0	5.4	0.917	1.048	0.998	0.998	19.360	Deleterious
1377	15	43260151	G	T	Pathogenic	TGM5	.	.	.	.	.	.	.	.	.	.	15	43260151	43260151	G	T	exonic	TGM5	.	nonsynonymous SNV	TGM5:NM_201631:exon3:c.G337A:p.G113S	15q15.2	.	.	0.0	D	1.0	D	1.0	D	0.000	D	1	D	2.39	M	-3.21	D	-5.59	D	0.837	7.028	33	0.999	0.991	D	0.967	D	0.888	D	0.487	0	5.33	0.871	0.935	0.781	0.998	16.888	Deleterious
1378	15	44615524	C	A	Pathogenic/Likely pathogenic	SPG11	.	.	.	.	.	.	.	.	.	.	15	44615524	44615524	C	A	exonic	SPG11	.	synonymous SNV	SPG11:NM_001160227:exon16:c.C2877T:p.C959C,SPG11:NM_025137:exon16:c.C2877T:p.C959C	15q21.1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
1379	15	44626429	C	T	Pathogenic/Likely pathogenic	SPG11	.	.	.	.	.	.	.	.	.	.	15	44626429	44626429	C	T	exonic	SPG11	.	nonsynonymous SNV	SPG11:NM_001160227:exon11:c.C2146A:p.Q716K,SPG11:NM_025137:exon11:c.C2146A:p.Q716K	15q21.1	7.7e-05	rs312262737	0.331	T	0.996	D	0.895	P	0.001	D	0.999	D	2.14	M	1.38	T	-1.17	N	0.666	1.182	11.65	0.973	0.918	D	0.105	D	0.588	D	0.707	0	5.79	0.917	1.048	0.988	0.991	17.809	Deleterious
1380	15	48411280	C	T	Pathogenic	FBN1	.	.	.	.	.	.	.	.	.	.	15	48411280	48411280	C	T	exonic	FBN1	.	synonymous SNV	FBN1:NM_000138:exon66:c.C8326A:p.R2776R	15q21.1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
1381	15	48412715	C	T	Pathogenic	FBN1	.	.	.	.	.	.	.	.	.	.	15	48412715	48412715	C	T	exonic	FBN1	.	synonymous SNV	FBN1:NM_000138:exon65:c.C8080A:p.R2694R	15q21.1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
1382	15	48415632	G	A	Pathogenic/Likely pathogenic	FBN1	.	.	.	.	.	.	.	.	.	.	15	48415632	48415632	G	A	exonic	FBN1	.	nonsynonymous SNV	FBN1:NM_000138:exon64:c.G7955T:p.C2652F	15q21.1	.	.	0.003	D	0.997	D	0.996	D	0.000	D	1	D	3.815	H	-5.91	D	-7.74	D	0.985	7.779	35	0.991	0.987	D	1.009	D	0.989	D	0.722	0	5.81	0.871	0.935	0.999	0.999	18.834	Deleterious
1383	15	48420700	G	A	Pathogenic/Likely pathogenic	FBN1	.	.	.	.	.	.	.	.	.	.	15	48420700	48420700	G	A	exonic	FBN1	.	nonsynonymous SNV	FBN1:NM_000138:exon63:c.G7806T:p.W2602C	15q21.1	.	.	0.013	D	1.0	D	0.998	D	0.000	D	1	D	0.55	N	-2.22	D	-8.03	D	0.912	7.831	35	0.994	0.996	D	0.335	D	0.670	D	0.707	0	5.96	0.871	0.935	1.000	1.000	20.017	Deleterious
1384	15	48420752	T	C	Pathogenic/Likely pathogenic	FBN1	.	.	.	.	.	.	.	.	.	.	15	48420752	48420752	T	C	exonic	FBN1	.	nonsynonymous SNV	FBN1:NM_000138:exon63:c.T7754G:p.I2585S	15q21.1	.	.	0.633	T	0.784	P	0.412	B	0.000	D	1.000	D	1.49	L	-2.98	D	-3.35	D	0.605	4.247	23.9	0.995	0.994	D	0.328	D	0.698	D	0.707	0	6.17	1.062	1.199	0.993	0.997	16.484	Deleterious
1385	15	48421651	G	A	Pathogenic	FBN1	.	.	.	.	.	.	.	.	.	.	15	48421651	48421651	G	A	exonic	FBN1	.	nonsynonymous SNV	FBN1:NM_000138:exon62:c.G7606T:p.G2536W	15q21.1	.	.	0.003	D	1.0	D	1.0	D	0.000	D	1	D	2.71	M	-2.97	D	-5.31	D	0.883	8.509	35	0.995	0.991	D	0.908	D	0.891	D	0.732	0	6.02	0.871	0.935	0.996	0.971	20.136	Deleterious
1386	15	48425865	G	A	Pathogenic/Likely pathogenic	FBN1	.	.	.	.	.	.	.	.	.	.	15	48425865	48425865	G	A	splicing	FBN1	NM_000138:exon59:c.7205-1C>T	.	.	15q21.1	.	.	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	5.463	26.1	0.995	0.990	D	.	.	.	.	0.322	0	6.17	0.871	0.935	0.897	0.865	20.474	Deleterious (FATHMM)
1387	15	48430736	T	C	Pathogenic/Likely pathogenic	FBN1	.	.	.	.	.	.	.	.	.	.	15	48430736	48430736	T	C	exonic	FBN1	.	nonsynonymous SNV	FBN1:NM_000138:exon56:c.T6806G:p.I2269S	15q21.1	.	.	0.015	D	0.96	D	0.761	P	0.000	D	1	D	2.295	M	-2.98	D	-4.75	D	0.9	6.737	32	0.995	0.993	D	0.757	D	0.823	D	0.719	0	5.91	1.062	1.199	0.998	0.995	16.010	Deleterious
1388	15	48432947	C	T	Pathogenic/Likely pathogenic	FBN1	.	.	.	.	.	.	.	.	.	.	15	48432947	48432947	C	T	exonic	FBN1	.	synonymous SNV	FBN1:NM_000138:exon55:c.C6658A:p.R2220R	15q21.1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
1389	15	48437347	C	T	Pathogenic/Likely pathogenic	FBN1	.	.	.	.	.	.	.	.	.	.	15	48437347	48437347	C	T	exonic	FBN1	.	synonymous SNV	FBN1:NM_000138:exon52:c.C6354A:p.I2118I	15q21.1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
1390	15	48437912	C	T	Pathogenic	FBN1	.	.	.	.	.	.	.	.	.	.	15	48437912	48437912	C	T	exonic	FBN1	.	synonymous SNV	FBN1:NM_000138:exon51:c.C6169A:p.R2057R	15q21.1	.	rs763091520	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
1391	15	48445430	C	T	Pathogenic	FBN1	.	.	.	.	.	.	.	.	.	.	15	48445430	48445430	C	T	exonic	FBN1	.	nonsynonymous SNV	FBN1:NM_000138:exon48:c.C5863A:p.Q1955K	15q21.1	.	.	1.0	T	0.086	B	0.056	B	0.004	N	0.657	D	1.23	L	-2.91	D	-0.4	N	0.203	2.143	17.13	0.859	0.956	D	-0.152	T	0.596	D	0.707	0	4.84	0.917	1.048	0.999	0.998	11.276	Deleterious
1392	15	48446701	G	A	Pathogenic	FBN1	.	.	.	.	.	.	.	.	.	.	15	48446701	48446701	G	A	intronic	FBN1	.	.	.	15q21.1	.	rs193922219	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	probably Tolerated (Intron)
1393	15	48452603	G	A	Pathogenic/Likely pathogenic	FBN1	.	.	.	.	.	.	.	.	.	.	15	48452603	48452603	G	A	exonic	FBN1	.	nonsynonymous SNV	FBN1:NM_000138:exon45:c.G5504T:p.C1835F	15q21.1	.	.	0.001	D	0.996	D	0.996	D	0.000	D	1	D	4.41	H	-6.49	D	-10.16	D	1.0	7.512	34	0.993	0.991	D	0.936	D	0.994	D	0.732	0	5.49	0.871	0.935	0.998	0.999	19.339	Deleterious
1394	15	48456691	C	T	Pathogenic	FBN1	.	.	.	.	.	.	.	.	.	.	15	48456691	48456691	C	T	exonic	FBN1	.	synonymous SNV	FBN1:NM_000138:exon44:c.C5368A:p.R1790R	15q21.1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
1395	15	48460258	G	A	Pathogenic	FBN1	.	.	.	.	.	.	.	.	.	.	15	48460258	48460258	G	A	exonic	FBN1	.	nonsynonymous SNV	FBN1:NM_000138:exon43:c.G5284T:p.G1762C	15q21.1	.	.	0.001	D	1.0	D	0.952	D	0.000	N	1.000	D	2.955	M	-1.69	D	-6.36	D	0.493	6.154	28.5	0.995	0.884	D	0.694	D	0.749	D	0.840	0	5.23	0.871	0.935	0.979	0.974	16.467	Deleterious
1396	15	48465580	C	T	Pathogenic	FBN1	.	.	.	.	.	.	.	.	.	.	15	48465580	48465580	C	T	exonic	FBN1	.	synonymous SNV	FBN1:NM_000138:exon40:c.C4930A:p.R1644R	15q21.1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
1397	15	48465820	C	T	Pathogenic	FBN1	.	.	.	.	.	.	.	.	.	.	15	48465820	48465820	C	T	exonic	FBN1	.	synonymous SNV	FBN1:NM_000138:exon39:c.C4786A:p.R1596R	15q21.1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
1398	15	48468070	C	T	Pathogenic	FBN1	.	.	.	.	.	.	.	.	.	.	15	48468070	48468070	C	T	exonic	FBN1	.	synonymous SNV	FBN1:NM_000138:exon38:c.C4615A:p.R1539R	15q21.1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
1399	15	48468097	C	T	Pathogenic	FBN1	.	.	.	.	.	.	.	.	.	.	15	48468097	48468097	C	T	exonic	FBN1	.	nonsynonymous SNV	FBN1:NM_000138:exon38:c.C4588A:p.R1530S	15q21.1	.	.	0.001	D	0.999	D	0.996	D	0.000	D	1.000	D	1.53	L	-3.17	D	-5.25	D	0.89	7.084	33	0.998	0.981	D	0.660	D	0.829	D	0.707	0	5.14	0.917	1.048	0.973	1.000	13.386	Deleterious
1400	15	48468542	G	A	Pathogenic/Likely pathogenic	FBN1	.	.	.	.	.	.	.	.	.	.	15	48468542	48468542	G	A	intronic	FBN1	.	.	.	15q21.1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	probably Tolerated (Intron)
1401	15	48487431	A	G	Pathogenic/Likely pathogenic	FBN1	.	.	.	.	.	.	.	.	.	.	15	48487431	48487431	A	G	exonic	FBN1	.	nonsynonymous SNV	FBN1:NM_000138:exon28:c.A3344C:p.D1115A	15q21.1	.	.	0.002	D	0.662	P	0.357	B	0.000	D	1	D	3.22	M	-3.74	D	-6.55	D	0.85	6.059	28.1	0.997	0.996	D	0.983	D	0.888	D	0.707	0	5.6	0.991	1.061	0.991	0.986	15.442	Deleterious
1402	15	48488233	G	A	Pathogenic	FBN1	.	.	.	.	.	.	.	.	.	.	15	48488233	48488233	G	A	exonic	FBN1	.	stopgain	FBN1:NM_000138:exon27:c.G3217T:p.E1073X	15q21.1	.	.	.	.	.	.	.	.	0.000	D	1	A	.	.	.	.	.	.	.	15.085	49	0.998	0.993	D	.	.	.	.	0.707	0	6.17	0.871	0.935	0.990	0.985	20.474	Deleterious (FATHMM)
1403	15	48489896	G	A	Pathogenic	FBN1	.	.	.	.	.	.	.	.	.	.	15	48489896	48489896	G	A	exonic	FBN1	.	stopgain	FBN1:NM_000138:exon25:c.G3037T:p.G1013X	15q21.1	.	.	.	.	.	.	.	.	0.000	D	1	A	.	.	.	.	.	.	.	14.273	45	0.993	0.993	D	.	.	.	.	0.707	0	5.56	0.871	0.935	0.998	0.998	19.107	Deleterious (FATHMM)
1404	15	48489980	G	A	Pathogenic/Likely pathogenic	FBN1	.	.	.	.	.	.	.	.	.	.	15	48489980	48489980	G	A	exonic	FBN1	.	nonsynonymous SNV	FBN1:NM_000138:exon25:c.G2953T:p.G985W	15q21.1	.	.	0.0	D	1.0	D	1.0	D	0.000	D	1	D	3.045	M	-4.42	D	-7.47	D	0.959	7.785	35	0.996	0.990	D	1.095	D	0.959	D	0.707	0	5.66	0.871	0.935	0.999	0.604	19.327	Deleterious
1405	15	48495575	C	A	Pathogenic/Likely pathogenic	FBN1	.	.	.	.	.	.	.	.	.	.	15	48495575	48495575	C	A	exonic	FBN1	.	synonymous SNV	FBN1:NM_000138:exon21:c.C2433T:p.C811C	15q21.1	.	rs193921256	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
1406	15	48510065	C	T	Pathogenic	FBN1	.	.	.	.	.	.	.	.	.	.	15	48510065	48510065	C	T	exonic	FBN1	.	synonymous SNV	FBN1:NM_000138:exon14:c.C1693A:p.R565R	15q21.1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
1407	15	48510125	C	T	Pathogenic	FBN1	.	.	.	.	.	.	.	.	.	.	15	48510125	48510125	C	T	exonic	FBN1	.	nonsynonymous SNV	FBN1:NM_000138:exon14:c.C1633A:p.R545S	15q21.1	.	.	0.002	D	0.997	D	0.995	D	0.000	D	1	D	1.345	L	-2.86	D	-5.44	D	0.83	7.241	34	0.998	0.989	D	0.576	D	0.786	D	0.732	0	5.5	0.917	0.902	0.900	0.695	18.317	Deleterious
1408	15	48513591	C	T	Pathogenic	FBN1	.	.	.	.	.	.	.	.	.	.	15	48513591	48513591	C	T	exonic	FBN1	.	synonymous SNV	FBN1:NM_000138:exon13:c.C1546A:p.R516R	15q21.1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
1409	15	48515382	G	A	Pathogenic	FBN1	.	.	.	.	.	.	.	.	.	.	15	48515382	48515382	G	A	intronic	FBN1	.	.	.	15q21.1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	probably Tolerated (Intron)
1410	15	48516225	C	T	Pathogenic	FBN1	.	.	.	.	.	.	.	.	.	.	15	48516225	48516225	C	T	exonic	FBN1	.	synonymous SNV	FBN1:NM_000138:exon11:c.C1285A:p.R429R	15q21.1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
1411	15	48537629	C	T	Pathogenic	FBN1	.	.	.	.	.	.	.	.	.	.	15	48537629	48537629	C	T	exonic	FBN1	.	nonsynonymous SNV	FBN1:NM_000138:exon7:c.C718A:p.R240S	15q21.1	.	.	0.065	T	0.993	D	0.982	D	0.000	D	1	D	-0.23	N	-1.59	D	-3.59	D	0.91	5.915	27.5	0.998	0.939	D	-0.364	T	0.435	T	0.507	0	4.49	-0.045	1.048	0.951	0.998	15.755	Tolerated
1412	15	48537704	C	T	Pathogenic	FBN1	.	.	.	.	.	.	.	.	.	.	15	48537704	48537704	C	T	exonic	FBN1	.	synonymous SNV	FBN1:NM_000138:exon7:c.C643A:p.R215R	15q21.1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
1413	15	48600217	C	T	Pathogenic	FBN1	.	.	.	.	.	.	.	.	.	.	15	48600217	48600217	C	T	exonic	FBN1	.	nonsynonymous SNV	FBN1:NM_000138:exon5:c.C364A:p.R122S	15q21.1	.	.	0.361	T	0.997	D	0.987	D	0.000	D	1.000	D	1.13	L	-1.46	T	-2.49	N	0.877	5.298	25.7	0.998	0.943	D	-0.239	T	0.525	D	0.707	0	6.17	0.917	1.048	0.990	0.969	14.149	Deleterious
1414	15	48613009	G	A	Pathogenic	FBN1	.	.	.	.	.	.	.	.	.	.	15	48613009	48613009	G	A	splicing	FBN1	NM_000138:exon3:c.247+1C>T	.	.	15q21.1	.	.	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	6.199	28.7	0.996	0.984	D	.	.	.	.	0.162	0	5.12	0.871	0.892	0.996	1.000	18.742	Deleterious (FATHMM)
1415	15	63057028	T	C	Pathogenic	TPM1	.	.	.	.	.	.	.	.	.	.	15	63057028	63057028	T	C	exonic	TPM1	.	nonsynonymous SNV	TPM1:NM_001018008:exon2:c.T176C:p.V59A,TPM1:NM_001301289:exon2:c.T176C:p.V59A,TPM1:NM_000366:exon3:c.T284C:p.V95A,TPM1:NM_001018004:exon3:c.T284C:p.V95A,TPM1:NM_001018005:exon3:c.T284C:p.V95A,TPM1:NM_001018006:exon3:c.T284C:p.V95A,TPM1:NM_001018007:exon3:c.T284C:p.V95A,TPM1:NM_001018020:exon3:c.T284C:p.V95A,TPM1:NM_001301244:exon3:c.T284C:p.V95A	15q22.2	.	rs104894504	0.001	D	0.954	P	0.97	D	0.000	D	1	A	3.67	H	-4.48	D	-2.79	D	0.913	4.855	24.9	0.967	0.934	D	1.096	D	0.963	D	0.672	0	5.72	0.991	1.011	1.000	1.000	15.181	Deleterious
1416	15	63060899	G	A	Pathogenic	TPM1	.	.	.	.	.	.	.	.	.	.	15	63060899	63060899	G	A	exonic	TPM1	.	nonsynonymous SNV	TPM1:NM_001018008:exon4:c.G415A:p.D139N,TPM1:NM_001301289:exon4:c.G415A:p.D139N,TPM1:NM_000366:exon5:c.G523A:p.D175N,TPM1:NM_001018004:exon5:c.G523A:p.D175N,TPM1:NM_001018005:exon5:c.G523A:p.D175N,TPM1:NM_001018006:exon5:c.G523A:p.D175N,TPM1:NM_001018007:exon5:c.G523A:p.D175N,TPM1:NM_001018020:exon5:c.G523A:p.D175N,TPM1:NM_001301244:exon5:c.G523A:p.D175N	15q22.2	.	rs104894503	0.042	D	0.986	D	0.926	D	0.000	D	1	A	3.23	M	-4.83	D	-3.13	D	0.382	6.691	32	0.998	0.972	D	1.095	D	0.970	D	0.672	0	5.8	0.917	0.998	0.990	0.996	19.038	Deleterious
1417	15	63062263	G	A	Pathogenic	TPM1	.	.	.	.	.	.	.	.	.	.	15	63062263	63062263	G	A	exonic	TPM1	.	nonsynonymous SNV	TPM1:NM_001018008:exon6:c.G580A:p.D194N,TPM1:NM_001301289:exon6:c.G580A:p.D194N,TPM1:NM_000366:exon7:c.G688A:p.D230N,TPM1:NM_001018004:exon7:c.G688A:p.D230N,TPM1:NM_001018005:exon7:c.G688A:p.D230N,TPM1:NM_001018006:exon7:c.G688A:p.D230N,TPM1:NM_001018007:exon7:c.G688A:p.D230N,TPM1:NM_001018020:exon7:c.G688A:p.D230N,TPM1:NM_001301244:exon7:c.G688A:p.D230N	15q22.2	.	rs199476317	0.057	T	1.0	D	0.998	D	0.000	D	1	D	2.65	M	-1.21	T	-2.57	D	0.254	5.806	27.1	0.998	0.977	D	0.176	D	0.657	D	0.672	0	5.84	0.917	1.048	1.000	0.998	19.123	Deleterious
1418	15	65021533	C	T	Pathogenic	MTFMT	.	.	.	.	.	.	.	.	.	.	15	65021533	65021533	C	T	exonic	MTFMT	.	stopgain	MTFMT:NM_139242:exon4:c.C626A:p.S209X	15q22.31	.	.	.	.	.	.	.	.	0.001	N	1	A	.	.	.	.	.	.	.	12.536	39	0.984	0.996	D	.	.	.	.	0.706	0	5.48	0.917	1.048	0.984	0.996	18.117	Deleterious (FATHMM)
1419	15	66435145	G	A	Pathogenic	MAP2K1	.	.	.	.	.	.	.	.	.	.	15	66435145	66435145	G	A	exonic	MAP2K1	.	nonsynonymous SNV	MAP2K1:NM_002755:exon2:c.G199A:p.D67N	15q22.31	.	rs727504317	0.021	D	0.999	D	0.928	D	0.000	D	1	D	2.25	M	-3.3	D	-3.3	D	0.126	5.390	26.0	0.999	0.990	D	-0.304	T	0.395	T	0.737	0	5.24	0.917	0.902	0.998	0.998	17.830	Tolerated
1420	15	66436837	G	T	Pathogenic/Likely pathogenic	MAP2K1	.	.	.	.	.	.	.	.	.	.	15	66436837	66436837	G	T	exonic	MAP2K1	.	nonsynonymous SNV	MAP2K1:NM_002755:exon3:c.G383T:p.G128V	15q22.31	.	rs121908596	0.002	D	0.999	D	0.993	D	0.000	D	1	A	0.975	L	-3.25	D	-8.33	D	0.992	6.735	32	0.998	0.993	D	0.748	D	0.826	D	0.707	0	5.15	0.917	0.953	0.998	0.999	18.656	Deleterious
1421	15	66436843	A	G	Pathogenic	MAP2K1	.	.	.	.	.	.	.	.	.	.	15	66436843	66436843	A	G	exonic	MAP2K1	.	nonsynonymous SNV	MAP2K1:NM_002755:exon3:c.A389G:p.Y130C	15q22.31	.	rs121908595	0.0	D	1.0	D	0.999	D	0.000	D	1	A	3.005	M	-3.39	D	-7.94	D	0.987	6.344	29.3	0.998	0.991	D	1.030	D	0.904	D	0.707	0	5.15	1.062	1.088	0.995	0.995	15.008	Deleterious
1422	15	71811481	A	C	Pathogenic/Likely pathogenic	NR2E3	.	.	.	.	.	.	.	.	.	.	15	71811481	71811481	A	C	splicing	NR2E3	NM_014249:exon2:c.119-2A>C,NM_016346:exon2:c.119-2A>C	.	.	15q23	.	rs2723341	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.258	17.89	0.936	0.763	D	.	.	.	.	0.057	0	3.69	0.936	1.030	0.691	0.947	6.843	Deleterious (FATHMM)
1423	15	71811530	G	A	Pathogenic/Likely pathogenic	NR2E3	.	.	.	.	.	.	.	.	.	.	15	71811530	71811530	G	A	exonic	NR2E3	.	nonsynonymous SNV	NR2E3:NM_014249:exon2:c.G166A:p.G56R,NR2E3:NM_016346:exon2:c.G166A:p.G56R	15q23	.	rs121912631	.	.	1.0	D	0.999	D	0.000	D	.	.	3.2	M	.	.	.	.	0.791	2.094	16.82	0.928	0.986	D	0.277	D	0.480	T	0.056	0	3.98	0.809	0.903	0.999	0.978	10.837	Tolerated
1424	15	71813573	G	A	Pathogenic/Likely pathogenic	NR2E3	.	.	.	.	.	.	.	.	.	.	15	71813573	71813573	G	A	exonic	NR2E3	.	nonsynonymous SNV	NR2E3:NM_014249:exon6:c.G932A:p.R311Q,NR2E3:NM_016346:exon6:c.G932A:p.R311Q	15q23	0.0002	rs28937873	.	.	0.627	P	0.171	B	0.000	D	.	.	1.415	L	.	.	.	.	0.244	1.690	14.35	0.821	0.781	D	-0.980	T	0.048	T	0.078	0	3.32	0.032	1.048	0.052	0.467	2.557	Tolerated
1425	15	72345476	G	A	Pathogenic/Likely pathogenic	HEXA	.	.	.	.	.	.	.	.	.	.	15	72345476	72345476	G	A	exonic	HEXA	.	nonsynonymous SNV	HEXA:NM_000520:exon13:c.G1496T:p.R499L	15q23	.	.	0.0	D	1.0	D	1.0	D	0.000	D	1	D	3.52	H	-4.45	D	-6.5	D	0.991	7.047	33	0.998	0.994	D	1.091	D	0.966	D	0.732	0	5.71	0.871	0.935	0.093	0.024	19.868	Deleterious
1426	15	72348047	G	A	Pathogenic	HEXA	.	.	.	.	.	.	.	.	.	.	15	72348047	72348047	G	A	splicing	HEXA	NM_000520:exon9:c.1073+1C>T	.	.	15q23	.	.	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	6.357	29.4	0.996	0.995	D	.	.	.	.	0.295	0	5.55	0.871	0.852	0.995	1.000	17.685	Deleterious (FATHMM)
1427	15	72350518	G	A	Pathogenic	HEXA	.	.	.	.	.	.	.	.	.	.	15	72350518	72350518	G	A	exonic	HEXA	.	nonsynonymous SNV	HEXA:NM_000520:exon7:c.G805T:p.G269C	15q23	.	.	0.001	D	1.0	D	1.0	D	0.000	D	1	D	3.555	H	-3.77	D	-8.5	D	0.919	7.693	35	0.997	0.998	D	1.081	D	0.951	D	0.732	0	5.87	0.871	0.852	0.989	1.000	20.223	Deleterious
1428	15	72355562	C	T	Pathogenic	HEXA	.	.	.	.	.	.	.	.	.	.	15	72355562	72355562	C	T	exonic	HEXA	.	synonymous SNV	HEXA:NM_000520:exon3:c.C409A:p.R137R	15q23	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
1429	15	72375971	T	C	Pathogenic/Likely pathogenic	HEXA	.	.	.	.	.	.	.	.	.	.	15	72375971	72375971	T	C	exonic	HEXA	.	nonsynonymous SNV	HEXA:NM_000520:exon1:c.T2G:p.M1R	15q23	.	.	0.0	D	0.0	B	0.001	B	0.065	N	1	D	.	.	-4.07	D	-1.02	N	0.834	3.561	23.1	0.963	0.954	D	0.310	D	0.740	D	0.442	0	2.19	1.062	1.088	0.010	0.270	4.084	Deleterious
1430	15	76274431	C	T	Pathogenic/Likely pathogenic	ETFA	.	.	.	.	.	.	.	.	.	.	15	76274431	76274431	C	T	exonic	ETFA	.	nonsynonymous SNV	ETFA:NM_001127716:exon8:c.C650A:p.T217K,ETFA:NM_000126:exon9:c.C797A:p.T266K	15q24.2	.	.	0.001	D	1.0	D	0.971	D	0.000	D	1	D	4.94	H	-3.32	D	-5.59	D	0.928	7.618	34	0.993	0.986	D	1.090	D	0.954	D	0.781	0	5.91	0.917	1.044	0.998	0.995	18.865	Deleterious
1431	15	76311387	T	C	Pathogenic/Likely pathogenic	ETFA	.	.	.	.	.	.	.	.	.	.	15	76311387	76311387	T	C	exonic	ETFA	.	nonsynonymous SNV	ETFA:NM_000126:exon1:c.T2G:p.M1R,ETFA:NM_001127716:exon1:c.T2G:p.M1R	15q24.3	.	.	0.001	D	0.676	P	0.227	B	0.000	D	1	D	.	.	-1.38	T	0.53	N	0.867	2.494	19.43	0.820	0.928	D	0.251	D	0.621	D	0.442	0	3.42	0.722	1.002	0.295	0.288	8.549	Deleterious
1432	15	80168263	G	T	Pathogenic	FAH	.	.	.	.	.	.	.	.	.	.	15	80168263	80168263	G	T	splicing	FAH	NM_000137:exon7:c.554-1G>T	.	.	15q25.1	0.0002	rs80338895	.	.	.	.	.	.	.	.	1	A	.	.	.	.	.	.	.	3.571	23.1	0.989	0.996	D	.	.	.	.	0.295	0	5.58	0.917	1.048	0.740	0.148	18.346	Deleterious (FATHMM)
1433	15	80173089	C	T	Pathogenic	FAH	.	.	.	.	.	.	.	.	.	.	15	80173089	80173089	C	T	exonic	FAH	.	nonsynonymous SNV	FAH:NM_000137:exon9:c.C782T:p.P261L	15q25.1	7.7e-05	rs80338898	0.0	D	1.0	D	0.999	D	0.000	D	1	A	4.51	H	-5.68	D	-9.41	D	0.983	6.422	29.7	0.998	0.914	D	0.968	D	0.989	D	0.737	0	4.58	0.871	0.852	0.999	0.759	16.126	Deleterious
1434	15	80180230	G	A	Pathogenic	FAH	.	.	.	.	.	.	.	.	.	.	15	80180230	80180230	G	A	intronic	FAH	.	.	.	15q25.1	0.0005	rs80338901	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	probably Tolerated (Intron)
1435	15	89319065	C	T	Pathogenic/Likely pathogenic	POLG	.	.	.	.	.	.	.	.	.	.	15	89319065	89319065	C	T	exonic	POLG	.	synonymous SNV	POLG:NM_001126131:exon20:c.C3139A:p.R1047R,POLG:NM_002693:exon20:c.C3139A:p.R1047R	15q26.1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
1436	15	89320877	C	T	Pathogenic/Likely pathogenic	POLG	.	.	.	.	.	.	.	.	.	.	15	89320877	89320877	C	T	exonic	POLG	.	nonsynonymous SNV	POLG:NM_001126131:exon18:c.C2870A:p.A957D,POLG:NM_002693:exon18:c.C2870A:p.A957D	15q26.1	.	.	0.0	D	1.0	D	0.999	D	0.000	D	1	D	3.205	M	-5.19	D	-5.66	D	0.996	6.289	29.1	0.998	0.978	D	1.080	D	0.977	D	0.672	0	5.24	0.917	1.048	0.998	0.973	18.819	Deleterious
1437	15	89321007	A	C	Pathogenic	POLG	.	.	.	.	.	.	.	.	.	.	15	89321007	89321007	A	C	exonic	POLG	.	nonsynonymous SNV	POLG:NM_001126131:exon18:c.A2740G:p.T914A,POLG:NM_002693:exon18:c.A2740G:p.T914A	15q26.1	.	.	0.0	D	0.999	D	0.996	D	0.000	D	1	D	3.07	M	-4.18	D	-4.78	D	0.915	4.820	24.8	0.998	0.981	D	1.095	D	0.945	D	0.672	0	5.24	0.991	1.061	0.987	0.998	15.135	Deleterious
1438	15	89321792	G	A	Pathogenic	POLG	.	.	.	.	.	.	.	.	.	.	15	89321792	89321792	G	A	exonic	POLG	.	nonsynonymous SNV	POLG:NM_001126131:exon16:c.G2542T:p.G848C,POLG:NM_002693:exon16:c.G2542T:p.G848C	15q26.1	.	.	0.0	D	1.0	D	1.0	D	0.000	D	1	D	3.245	M	-5.35	D	-8.9	D	0.978	7.405	34	0.998	0.994	D	1.065	D	0.979	D	0.672	0	4.56	0.871	0.935	0.999	0.995	15.416	Deleterious
1439	15	89323426	G	C	Pathogenic	POLG	.	.	.	.	.	.	.	.	.	.	15	89323426	89323426	G	C	exonic	POLG	.	synonymous SNV	POLG:NM_001126131:exon13:c.G2243G:p.W748W,POLG:NM_002693:exon13:c.G2243G:p.W748W	15q26.1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
1440	15	89327201	G	A	Pathogenic	POLG	.	.	.	.	.	.	.	.	.	.	15	89327201	89327201	G	A	exonic	POLG	.	nonsynonymous SNV	POLG:NM_001126131:exon7:c.G1399T:p.A467S,POLG:NM_002693:exon7:c.G1399T:p.A467S	15q26.1	.	.	0.046	D	0.999	D	0.991	D	0.000	D	1	D	2.265	M	-3.1	D	-2.48	N	0.69	6.027	27.9	0.997	0.991	D	0.872	D	0.864	D	0.707	0	5.0	0.871	0.892	0.996	0.980	18.482	Deleterious
1441	15	89631662	G	T	Pathogenic	KIF7	.	.	.	.	.	.	.	.	.	.	15	89631662	89631662	G	T	exonic	KIF7	.	nonsynonymous SNV	KIF7:NM_198525:exon15:c.G2944A:p.E982K	15q26.1	.	.	0.003	D	0.999	D	0.995	D	0.000	D	1	D	2.175	M	1.01	T	-3.34	D	0.594	7.151	34	0.999	0.966	D	-0.720	T	0.257	T	0.672	0	5.18	0.871	0.935	0.997	1.000	18.683	Tolerated
1442	15	89652870	C	T	Pathogenic	KIF7	.	.	.	.	.	.	.	.	.	.	15	89652870	89652870	C	T	exonic	KIF7	.	synonymous SNV	KIF7:NM_198525:exon2:c.C61A:p.R21R	15q26.1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
1443	15	90088702	G	A	Pathogenic	IDH2	.	.	.	.	.	.	.	.	.	.	15	90088702	90088702	G	A	exonic	IDH2	.	nonsynonymous SNV	IDH2:NM_001290114:exon2:c.G29T:p.R10L,IDH2:NM_001289910:exon4:c.G263T:p.R88L,IDH2:NM_002168:exon4:c.G419T:p.R140L	15q26.1	.	.	0.0	D	0.996	D	0.964	D	0.000	D	1	D	3.89	H	-2.23	D	-6.58	D	0.988	5.978	27.8	0.998	0.988	D	0.907	D	0.846	D	0.745	0	4.75	0.871	0.935	0.990	1.000	12.446	Deleterious
1444	15	90761015	C	T	Pathogenic	BLM	.	.	.	.	.	.	.	.	.	.	15	90761015	90761015	C	T	exonic	BLM	.	stopgain	BLM:NM_000057:exon7:c.C1642T:p.Q548X,BLM:NM_001287247:exon7:c.C1642T:p.Q548X,BLM:NM_001287248:exon7:c.C517T:p.Q173X,BLM:NM_001287246:exon8:c.C1642T:p.Q548X	15q26.1	0.0002	rs200389141	.	.	.	.	.	.	0.687	N	1	A	.	.	.	.	.	.	.	9.073	35	0.997	0.879	D	.	.	.	.	0.707	0	4.93	0.033	0.892	0.001	0.064	13.900	Deleterious (FATHMM)
1445	15	90784953	C	T	Pathogenic/Likely pathogenic	BLM	.	.	.	.	.	.	.	.	.	.	15	90784953	90784953	C	T	exonic	BLM	.	stopgain	BLM:NM_000057:exon14:c.C2695T:p.R899X,BLM:NM_001287247:exon14:c.C2695T:p.R899X,BLM:NM_001287248:exon14:c.C1570T:p.R524X,BLM:NM_001287246:exon15:c.C2695T:p.R899X	15q26.1	.	rs587779884	.	.	.	.	.	.	0.006	N	1	A	.	.	.	.	.	.	.	11.042	37	0.992	0.387	N	.	.	.	.	0.732	0	0.359	-0.022	-1.151	0.974	0.872	8.760	Deleterious (DANN)
1446	16	2057179	G	A	Pathogenic	TSC2	.	.	.	.	.	.	.	.	.	.	16	2057179	2057179	G	A	splicing	TSC2	NM_001077183:exon9:c.848+1G>A,NM_000548:exon9:c.848+1G>A,NM_001114382:exon9:c.848+1G>A	.	.	16p13.3	.	rs45466296	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	4.147	23.8	0.993	0.971	D	.	.	.	.	0.257	0	4.65	0.917	0.953	0.976	0.703	17.876	Deleterious (FATHMM)
1447	16	2074254	T	C	Pathogenic/Likely pathogenic, not provided	TSC2	.	.	.	.	.	.	.	.	.	.	16	2074254	2074254	T	C	exonic	TSC2	.	nonsynonymous SNV	TSC2:NM_000548:exon22:c.T2410C:p.C804R,TSC2:NM_001077183:exon22:c.T2410C:p.C804R,TSC2:NM_001114382:exon22:c.T2410C:p.C804R	16p13.3	.	rs137853995	0.001	D	1.0	D	1.0	D	0.000	D	1	D	2.66	M	-3.23	D	-9.7	D	0.989	5.546	26.4	0.998	0.985	D	1.000	D	0.893	D	0.707	0	5.35	0.991	0.913	0.996	0.952	15.327	Deleterious
1448	16	2076142	G	A	Pathogenic	TSC2	.	.	.	.	.	.	.	.	.	.	16	2076142	2076142	G	A	exonic	TSC2	.	nonsynonymous SNV	TSC2:NM_000548:exon24:c.G2714A:p.R905Q,TSC2:NM_001077183:exon24:c.G2714A:p.R905Q,TSC2:NM_001114382:exon24:c.G2714A:p.R905Q	16p13.3	.	rs45517259	0.0	D	1.0	D	0.996	D	0.000	D	1	A	2.165	M	-3.58	D	-3.61	D	0.978	7.568	34	1.000	0.991	D	1.077	D	0.930	D	0.707	0	5.09	0.917	0.949	0.998	0.998	18.513	Deleterious
1449	16	2080179	C	T	Pathogenic	TSC2	.	.	.	.	.	.	.	.	.	.	16	2080179	2080179	C	T	exonic	TSC2	.	stopgain	TSC2:NM_001077183:exon29:c.C3280T:p.R1094X,TSC2:NM_000548:exon30:c.C3412T:p.R1138X,TSC2:NM_001114382:exon30:c.C3412T:p.R1138X	16p13.3	.	rs45451497	.	.	.	.	.	.	0.004	N	1	A	.	.	.	.	.	.	.	13.057	41	0.997	0.986	D	.	.	.	.	0.707	0	4.74	0.871	0.932	0.923	0.121	12.803	Deleterious (FATHMM)
1450	16	2080365	C	T	Pathogenic	TSC2	.	.	.	.	.	.	.	.	.	.	16	2080365	2080365	C	T	exonic	TSC2	.	nonsynonymous SNV	TSC2:NM_001077183:exon29:c.C3466T:p.R1156W,TSC2:NM_000548:exon30:c.C3598T:p.R1200W,TSC2:NM_001114382:exon30:c.C3598T:p.R1200W	16p13.3	.	rs45438205	0.0	D	1.0	D	1.0	D	0.001	D	1	D	2.045	M	-3.41	D	-7.04	D	0.992	8.354	35	0.999	0.870	D	1.009	D	0.895	D	0.707	0	4.74	0.871	0.932	0.998	0.999	17.743	Deleterious
1451	16	2084597	C	T	Pathogenic	TSC2	.	.	.	.	.	.	.	.	.	.	16	2084597	2084597	C	T	exonic	TSC2	.	stopgain	TSC2:NM_001077183:exon32:c.C4174T:p.R1392X,TSC2:NM_001114382:exon33:c.C4306T:p.R1436X,TSC2:NM_000548:exon34:c.C4375T:p.R1459X	16p13.3	.	rs45517340	.	.	.	.	.	.	0.000	D	1	A	.	.	.	.	.	.	.	12.746	40	0.998	0.622	D	.	.	.	.	0.672	0	3.02	-0.048	-0.055	0.991	0.929	7.434	Deleterious (FATHMM)
1452	16	2088117	G	A	Pathogenic	TSC2	.	.	.	.	.	.	.	.	.	.	16	2088117	2088117	G	A	exonic	TSC2	.	nonsynonymous SNV	TSC2:NM_001077183:exon38:c.G4937A:p.R1646H,TSC2:NM_001114382:exon39:c.G5069A:p.R1690H,TSC2:NM_000548:exon40:c.G5138A:p.R1713H	16p13.3	.	rs45517395	0.0	D	1.0	D	0.997	D	0.000	D	1	D	3.255	M	-3.51	D	-4.52	D	0.936	6.265	29.0	0.999	0.976	D	1.086	D	0.927	D	0.632	0	4.51	0.917	0.898	0.985	0.712	17.245	Deleterious
1453	16	2088293	C	T	Pathogenic	TSC2	.	.	.	.	.	.	.	.	.	.	16	2088293	2088293	C	T	exonic	TSC2	.	nonsynonymous SNV	TSC2:NM_001077183:exon39:c.C5026T:p.R1676W,TSC2:NM_001114382:exon40:c.C5158T:p.R1720W,TSC2:NM_000548:exon41:c.C5227T:p.R1743W	16p13.3	.	rs45517412	0.0	D	1.0	D	1.0	D	0.000	D	1.000	D	3.21	M	-4.29	D	-7.26	D	0.967	7.192	34	0.999	0.639	D	1.073	D	0.948	D	0.672	0	0.035	0.067	-0.202	0.960	0.905	13.319	Deleterious
1454	16	2088294	G	A	Pathogenic	TSC2	.	.	.	.	.	.	.	.	.	.	16	2088294	2088294	G	A	exonic	TSC2	.	nonsynonymous SNV	TSC2:NM_001077183:exon39:c.G5027A:p.R1676Q,TSC2:NM_001114382:exon40:c.G5159A:p.R1720Q,TSC2:NM_000548:exon41:c.G5228A:p.R1743Q	16p13.3	.	rs45507199	0.0	D	1.0	D	1.0	D	0.000	D	1	D	3.21	M	-4.23	D	-3.63	D	0.971	7.553	34	1.000	0.958	D	1.106	D	0.957	D	0.672	0	4.21	0.917	0.898	0.956	0.926	16.949	Deleterious
1455	16	2317763	A	T	Pathogenic/Likely pathogenic	ABCA3	.	.	.	.	.	.	.	.	.	.	16	2317763	2317763	A	T	exonic	ABCA3	.	synonymous SNV	ABCA3:NM_001089:exon9:c.A875A:p.E292E	16p13.3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
1456	16	2496872	C	T	Pathogenic	TBC1D24	.	.	.	.	.	.	.	.	.	.	16	2496872	2496872	C	T	exonic	TBC1D24	.	nonsynonymous SNV	TBC1D24:NM_001199107:exon2:c.C724T:p.R242C,TBC1D24:NM_020705:exon2:c.C724T:p.R242C	16p13.3	.	rs398122965	0.0	D	1.0	D	1.0	D	0.000	D	1	D	2.835	M	1.85	T	-7.82	D	0.996	5.813	27.2	0.999	0.935	D	-0.618	T	0.196	T	0.615	0	4.2	-0.058	0.845	0.921	0.865	15.343	Tolerated
1457	16	3243205	G	A	Pathogenic	MEFV	.	.	.	.	.	.	.	.	.	.	16	3243205	3243205	G	A	exonic	MEFV	.	nonsynonymous SNV	MEFV:NM_000243:exon10:c.G2282T:p.R761L	16p13.3	.	.	0.191	T	0.064	B	0.071	B	0.143	N	1	N	-0.37	N	0.21	T	-2.05	N	0.373	1.226	11.88	0.943	0.025	N	-1.020	T	0.077	T	0.497	0	1.26	0.057	-0.277	0.645	0.237	6.360	Tolerated
1458	16	3243257	G	T	Pathogenic/Likely pathogenic, not provided	MEFV	.	.	.	.	.	.	.	.	.	.	16	3243257	3243257	G	T	exonic	MEFV	.	nonsynonymous SNV	MEFV:NM_000243:exon10:c.G2230A:p.A744T	16p13.3	.	.	1.0	T	0.0	B	0.0	B	0.065	N	1	D	-2.405	N	-0.31	T	2.32	N	0.287	-1.628	0.002	0.243	0.017	N	-0.886	T	0.033	T	0.497	0	-3.05	-2.094	-0.760	0.009	0.000	4.186	Tolerated
1459	16	3243310	T	C	Pathogenic	MEFV	.	.	.	.	.	.	.	.	.	.	16	3243310	3243310	T	C	exonic	MEFV	.	nonsynonymous SNV	MEFV:NM_000243:exon10:c.T2177G:p.V726G	16p13.3	.	.	0.13	T	0.001	B	0.003	B	0.016	N	1	N	-0.885	N	-0.26	T	-0.74	N	0.258	0.186	4.526	0.677	0.059	N	-1.034	T	0.092	T	0.497	0	-0.518	-0.056	-0.353	0.161	0.001	3.080	Tolerated
1460	16	3243403	A	G	Pathogenic/Likely pathogenic, not provided	MEFV	.	.	.	.	.	.	.	.	.	.	16	3243403	3243403	A	G	exonic	MEFV	.	nonsynonymous SNV	MEFV:NM_000243:exon10:c.A2084C:p.K695T	16p13.3	.	.	0.051	T	0.994	D	0.931	D	0.965	N	1	N	2.215	M	0.11	T	-1.99	N	0.657	1.868	15.39	0.995	0.155	N	-0.871	T	0.287	T	0.516	0	0.964	0.018	0.964	0.087	0.609	1.633	Tolerated
1461	16	3243405	G	A	Pathogenic	MEFV	.	.	.	.	.	.	.	.	.	.	16	3243405	3243405	G	A	exonic	MEFV	.	nonsynonymous SNV	MEFV:NM_000243:exon10:c.G2082T:p.M694I	16p13.3	.	.	0.344	T	0.786	P	0.337	B	0.587	N	1	N	1.315	L	-0.3	T	-1.79	N	0.858	-0.382	0.427	0.631	0.142	N	-0.930	T	0.184	T	0.516	0	-1.75	0.008	0.700	0.237	0.853	5.000	Tolerated
1462	16	3243407	A	G	Pathogenic	MEFV	.	.	.	.	.	.	.	.	.	.	16	3243407	3243407	A	G	exonic	MEFV	.	nonsynonymous SNV	MEFV:NM_000243:exon10:c.A2080C:p.M694L	16p13.3	.	.	1.0	T	0.01	B	0.022	B	0.587	N	1.000	N	0.485	N	-0.24	T	-1.16	N	0.881	-1.290	0.005	0.279	0.708	D	-0.990	T	0.138	T	0.516	0	2.15	0.054	0.789	0.396	0.921	4.659	Tolerated
1463	16	3243447	G	C	Pathogenic	MEFV	.	.	.	.	.	.	.	.	.	.	16	3243447	3243447	G	C	exonic	MEFV	.	synonymous SNV	MEFV:NM_000243:exon10:c.G2040G:p.M680M	16p13.3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
1464	16	3243529	G	A	Pathogenic	MEFV	.	.	.	.	.	.	.	.	.	.	16	3243529	3243529	G	A	exonic	MEFV	.	nonsynonymous SNV	MEFV:NM_000243:exon10:c.G1958T:p.R653L	16p13.3	.	.	0.015	D	0.032	B	0.031	B	0.870	N	1	N	0.975	L	0.22	T	-1.84	N	0.366	2.666	20.6	0.979	0.038	N	-0.933	T	0.144	T	0.554	0	1.62	-0.845	0.085	0.006	0.065	8.039	Tolerated
1465	16	3749631	G	A	Pathogenic	CREBBP	.	.	.	.	.	.	.	.	.	.	16	3749631	3749631	G	A	exonic	CREBBP	.	stopgain	CREBBP:NM_001079846:exon20:c.G3718T:p.E1240X,CREBBP:NM_004380:exon21:c.G3832T:p.E1278X	16p13.3	.	.	.	.	.	.	.	.	0.000	D	1	A	.	.	.	.	.	.	.	14.653	47	0.997	0.984	D	.	.	.	.	0.732	0	5.81	0.871	0.935	0.999	0.988	18.646	Deleterious (FATHMM)
1466	16	3751725	G	A	Pathogenic	CREBBP	.	.	.	.	.	.	.	.	.	.	16	3751725	3751725	G	A	splicing	CREBBP	NM_004380:exon20:c.3779+1C>T,NM_001079846:exon19:c.3665+1C>T	.	.	16p13.3	.	.	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	5.289	25.7	0.995	0.989	D	.	.	.	.	0.295	0	5.35	0.871	0.935	0.999	1.000	19.073	Deleterious (FATHMM)
1467	16	5082565	C	T	Pathogenic/Likely pathogenic	ALG1	.	.	.	.	.	.	.	.	.	.	16	5082565	5082565	C	T	exonic	ALG1	.	nonsynonymous SNV	ALG1:NM_019109:exon11:c.C1079T:p.A360V	16p13.3	.	rs398124348	0.031	D	0.998	D	0.94	D	0.000	D	1	D	3.27	M	-2.27	D	-3.26	D	0.908	6.895	33	0.999	0.901	D	0.789	D	0.806	D	0.660	0	4.33	0.871	0.062	0.870	0.866	12.079	Deleterious
1468	16	8811088	C	A	Pathogenic	PMM2	.	.	.	.	.	.	.	.	.	.	16	8811088	8811088	C	A	exonic	PMM2	.	nonsynonymous SNV	PMM2:NM_000303:exon5:c.C357A:p.F119L	16p13.2	.	rs80338701	0.001	D	1.0	D	0.996	D	0.000	D	1	A	3.635	H	-5.43	D	-5.82	D	0.973	6.825	32	0.997	0.930	D	1.114	D	0.979	D	0.707	0	5.43	0.871	0.888	1.000	0.996	9.941	Deleterious
1469	16	8811116	G	A	Pathogenic/Likely pathogenic	PMM2	.	.	.	.	.	.	.	.	.	.	16	8811116	8811116	G	A	exonic	PMM2	.	nonsynonymous SNV	PMM2:NM_000303:exon5:c.G385A:p.V129M	16p13.2	.	rs104894525	0.001	D	1.0	D	0.982	D	0.000	D	1	A	3.165	M	-5.21	D	-2.25	N	0.871	6.466	29.9	0.999	0.894	D	1.084	D	0.976	D	0.707	0	5.43	0.917	0.994	0.992	0.997	18.231	Deleterious
1470	16	8811153	G	A	Pathogenic	PMM2	.	.	.	.	.	.	.	.	.	.	16	8811153	8811153	G	A	exonic	PMM2	.	nonsynonymous SNV	PMM2:NM_000303:exon5:c.G422A:p.R141H	16p13.2	0.0039	rs28936415	0.033	D	0.993	D	0.51	P	0.000	D	1	A	3.635	H	-5.59	D	-4.8	D	0.955	7.497	34	0.999	0.974	D	0.763	D	0.951	D	0.707	0	5.43	0.917	0.994	0.995	0.998	18.231	Deleterious
1471	16	8811660	T	C	Pathogenic/Likely pathogenic	PMM2	.	.	.	.	.	.	.	.	.	.	16	8811660	8811660	T	C	exonic	PMM2	.	nonsynonymous SNV	PMM2:NM_000303:exon6:c.T470C:p.F157S	16p13.2	0.0007	rs190521996	0.001	D	1.0	D	1.0	D	0.000	D	1	D	3.3	M	-4.94	D	-5.65	D	0.987	6.469	29.9	0.999	0.967	D	1.092	D	0.970	D	0.707	0	5.22	0.991	1.007	0.998	0.995	14.292	Deleterious
1472	16	8811674	C	T	Pathogenic/Likely pathogenic	PMM2	.	.	.	.	.	.	.	.	.	.	16	8811674	8811674	C	T	exonic	PMM2	.	nonsynonymous SNV	PMM2:NM_000303:exon6:c.C484T:p.R162W	16p13.2	.	rs104894526	0.0	D	0.011	B	0.017	B	0.027	N	0.999	A	2.265	M	-5.1	D	-5.09	D	0.86	7.368	34	0.980	0.855	D	0.990	D	0.921	D	0.707	0	3.14	-0.040	0.888	0.957	0.990	13.664	Deleterious
1473	16	8847794	C	T	Pathogenic/Likely pathogenic	PMM2	.	.	.	.	.	.	.	.	.	.	16	8847794	8847794	C	T	exonic	PMM2	.	nonsynonymous SNV	PMM2:NM_000303:exon8:c.C710T:p.T237M	16p13.2	.	rs80338708	0.0	D	1.0	D	1.0	D	0.000	D	1	D	3.605	H	-5.13	D	-5.59	D	0.958	6.190	28.6	0.999	0.964	D	1.067	D	0.979	D	0.707	0	5.22	0.871	0.852	0.380	0.210	18.137	Deleterious
1474	16	8847794	C	G	Pathogenic	PMM2	.	.	.	.	.	.	.	.	.	.	16	8847794	8847794	C	G	exonic	PMM2	.	nonsynonymous SNV	PMM2:NM_000303:exon8:c.C710G:p.T237R	16p13.2	7.7e-05	rs80338708	0.0	D	1.0	D	1.0	D	0.000	D	1	D	3.605	H	-5.15	D	-5.47	D	0.969	5.864	27.3	0.993	0.970	D	1.067	D	0.979	D	0.707	0	5.22	0.871	0.852	0.380	0.210	18.137	Deleterious
1475	16	11553576	G	A	Pathogenic	LITAF	.	.	.	.	.	.	.	.	.	.	16	11553576	11553576	G	A	exonic	LITAF	.	nonsynonymous SNV	LITAF:NM_001136472:exon3:c.G334T:p.G112C,LITAF:NM_001136473:exon3:c.G334T:p.G112C,LITAF:NM_004862:exon3:c.G334T:p.G112C	16p13.13	.	.	0.0	D	1.0	D	1.0	D	0.000	D	1	D	3.66	H	-3.39	D	-8.93	D	0.992	6.429	29.7	0.997	0.892	D	1.077	D	0.926	D	0.732	0	5.39	0.871	0.935	0.937	0.501	16.665	Deleterious
1476	16	15726915	T	C	Pathogenic	MYH11	.	.	.	.	.	.	.	.	.	.	16	15726915	15726915	T	C	exonic	MYH11	.	nonsynonymous SNV	MYH11:NM_002474:exon28:c.T3791G:p.L1264R,MYH11:NM_022844:exon28:c.T3791G:p.L1264R,MYH11:NM_001040113:exon29:c.T3812G:p.L1271R,MYH11:NM_001040114:exon29:c.T3812G:p.L1271R	16p13.11	.	.	0.044	D	0.958	D	0.936	D	0.000	D	1	D	2.8	M	-2.0	D	-4.0	D	0.95	5.043	25.2	0.998	0.981	D	0.666	D	0.751	D	0.615	0	4.68	1.062	1.194	0.999	1.000	13.628	Deleterious
1477	16	16163009	C	T	Pathogenic	ABCC6	.	.	.	.	.	.	.	.	.	.	16	16163009	16163009	C	T	exonic	ABCC6	.	synonymous SNV	ABCC6:NM_001171:exon24:c.C3490A:p.R1164R	16p13.11	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
1478	16	16163078	C	T	Pathogenic	ABCC6	.	.	.	.	.	.	.	.	.	.	16	16163078	16163078	C	T	exonic	ABCC6	.	synonymous SNV	ABCC6:NM_001171:exon24:c.C3421A:p.R1141R	16p13.11	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
1479	16	23603471	C	A	Pathogenic	PALB2	.	.	.	.	.	.	.	.	.	.	16	23603471	23603471	C	A	exonic	PALB2	.	synonymous SNV	PALB2:NM_024675:exon13:c.C3549T:p.Y1183Y	16p12.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
1480	16	23603471	C	G	Pathogenic/Likely pathogenic, not provided, risk factor	PALB2	.	.	.	.	.	.	.	.	.	.	16	23603471	23603471	C	G	exonic	PALB2	.	synonymous SNV	PALB2:NM_024675:exon13:c.C3549C:p.Y1183Y	16p12.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
1481	16	23607958	C	T	Pathogenic/Likely pathogenic, risk factor	PALB2	.	.	.	.	.	.	.	.	.	.	16	23607958	23607958	C	T	exonic	PALB2	.	synonymous SNV	PALB2:NM_024675:exon12:c.C3256A:p.R1086R	16p12.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
1482	16	23614003	G	C	Pathogenic/Likely pathogenic	PALB2	.	.	.	.	.	.	.	.	.	.	16	23614003	23614003	G	C	splicing	PALB2	NM_024675:exon11:c.3201+1C>G	.	.	16p12.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.
1483	16	23622979	G	T	Pathogenic	PALB2	.	.	.	.	.	.	.	.	.	.	16	23622979	23622979	G	T	exonic	PALB2	.	nonsynonymous SNV	PALB2:NM_024675:exon9:c.G2986A:p.E996K	16p12.2	.	.	0.01	D	0.98	D	0.814	P	0.001	D	0.981	N	2.095	M	1.64	T	-2.87	D	0.565	6.650	32	0.999	0.757	D	-0.925	T	0.144	T	0.707	0	4.88	0.871	0.816	0.994	0.994	12.922	Tolerated
1484	16	23629645	G	T	Pathogenic	PALB2	.	.	.	.	.	.	.	.	.	.	16	23629645	23629645	G	T	exonic	PALB2	.	nonsynonymous SNV	PALB2:NM_024675:exon5:c.G2509A:p.E837K	16p12.2	.	rs587778587	0.146	T	0.922	P	0.186	B	0.001	D	0.671	N	1.78	L	2.39	T	-1.91	N	0.165	2.118	16.97	0.902	0.319	N	-1.034	T	0.031	T	0.707	0	2.43	0.598	0.060	0.468	0.324	7.220	Tolerated
1485	16	23629768	G	T	Pathogenic/Likely pathogenic	PALB2	.	.	.	.	.	.	.	.	.	.	16	23629768	23629768	G	T	exonic	PALB2	.	nonsynonymous SNV	PALB2:NM_024675:exon5:c.G2386A:p.G796R	16p12.2	.	.	0.006	D	0.617	P	0.221	B	0.552	N	1	N	2.19	M	2.36	T	-3.72	D	0.208	2.565	19.89	0.988	0.342	N	-1.061	T	0.049	T	0.707	0	3.08	0.871	-0.348	0.158	0.031	8.426	Tolerated
1486	16	23629831	C	T	Pathogenic, risk factor	PALB2	.	.	.	.	.	.	.	.	.	.	16	23629831	23629831	C	T	exonic	PALB2	.	nonsynonymous SNV	PALB2:NM_024675:exon5:c.C2323A:p.Q775K	16p12.2	.	.	0.087	T	0.775	P	0.306	B	0.190	N	1	N	1.95	M	2.46	T	-1.93	N	0.136	0.914	10.16	0.927	0.390	N	-1.047	T	0.048	T	0.707	0	5.12	0.917	0.998	0.039	0.056	11.689	Tolerated
1487	16	23629897	C	T	Pathogenic	PALB2	.	.	.	.	.	.	.	.	.	.	16	23629897	23629897	C	T	exonic	PALB2	.	synonymous SNV	PALB2:NM_024675:exon5:c.C2257A:p.R753R	16p12.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
1488	16	23634893	T	A	Pathogenic	PALB2	.	.	.	.	.	.	.	.	.	.	16	23634893	23634893	T	A	exonic	PALB2	.	synonymous SNV	PALB2:NM_024675:exon4:c.T1653T:p.Y551Y	16p12.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
1489	16	23634913	G	T	Pathogenic	PALB2	.	.	.	.	.	.	.	.	.	.	16	23634913	23634913	G	T	exonic	PALB2	.	nonsynonymous SNV	PALB2:NM_024675:exon4:c.G1633A:p.E545K	16p12.2	.	.	0.377	T	0.077	B	0.025	B	0.125	N	1	N	0.895	L	2.62	T	-0.8	N	0.242	0.395	6.572	0.976	0.027	N	-1.005	T	0.022	T	0.707	0	2.72	0.008	0.077	0.003	0.002	5.726	Tolerated
1490	16	23635306	C	T	Pathogenic	PALB2	.	.	.	.	.	.	.	.	.	.	16	23635306	23635306	C	T	exonic	PALB2	.	synonymous SNV	PALB2:NM_024675:exon4:c.C1240A:p.R414R	16p12.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
1491	16	23635795	C	T	Pathogenic	PALB2	.	.	.	.	.	.	.	.	.	.	16	23635795	23635795	C	T	exonic	PALB2	.	nonsynonymous SNV	PALB2:NM_024675:exon4:c.C751A:p.Q251K	16p12.2	.	.	0.283	T	0.07	B	0.033	B	0.510	N	1	N	1.1	L	2.53	T	-0.63	N	0.156	-0.221	0.992	0.709	0.293	N	-0.974	T	0.030	T	0.707	0	1.69	0.045	-0.098	0.013	0.000	7.525	Tolerated
1492	16	23637865	C	T	Pathogenic/Likely pathogenic	PALB2	.	.	.	.	.	.	.	.	.	.	16	23637865	23637865	C	T	exonic	PALB2	.	nonsynonymous SNV	PALB2:NM_024675:exon3:c.C196A:p.Q66K	16p12.2	.	rs180177083	0.05	D	0.705	P	0.359	B	0.012	N	1	N	2.075	M	1.63	T	-1.99	N	0.28	2.929	22.0	0.898	0.244	N	-1.023	T	0.089	T	0.651	0	4.69	0.917	1.047	0.343	0.214	10.31	Tolerated
1493	16	23638099	G	T	Pathogenic	PALB2	.	.	.	.	.	.	.	.	.	.	16	23638099	23638099	G	T	exonic	PALB2	.	nonsynonymous SNV	PALB2:NM_024675:exon2:c.G79A:p.E27K	16p12.2	.	.	0.0	D	0.999	D	0.961	D	0.000	D	0.907	D	2.19	M	1.19	T	-2.72	D	0.712	6.948	33	0.999	0.885	D	-0.572	T	0.222	T	0.672	0	5.5	0.871	0.934	0.998	0.993	16.885	Tolerated
1494	16	30737343	C	T	Pathogenic	SRCAP	.	.	.	.	.	.	.	.	.	.	16	30737343	30737343	C	T	exonic	SRCAP	.	stopgain	SRCAP:NM_006662:exon34:c.C7303T:p.R2435X	16p11.2	.	rs199469465	.	.	.	.	.	.	0.080	N	1	A	.	.	.	.	.	.	.	9.065	35	0.972	0.280	N	.	.	.	.	0.707	0	-0.841	-1.691	-0.929	0.194	0.892	7.133	Deleterious (DANN)
1495	16	30737370	C	T	Pathogenic	SRCAP	.	.	.	.	.	.	.	.	.	.	16	30737370	30737370	C	T	exonic	SRCAP	.	stopgain	SRCAP:NM_006662:exon34:c.C7330T:p.R2444X	16p11.2	.	rs199469464	.	.	.	.	.	.	0.742	N	1	A	.	.	.	.	.	.	.	14.170	45	0.997	0.964	D	.	.	.	.	0.707	0	4.18	0.871	0.807	0.007	0.999	14.095	Deleterious (FATHMM)
1496	16	53652844	A	C	Pathogenic	RPGRIP1L	.	.	.	.	.	.	.	.	.	.	16	53652844	53652844	A	C	exonic	RPGRIP1L	.	nonsynonymous SNV	RPGRIP1L:NM_001127897:exon15:c.A1843G:p.T615A,RPGRIP1L:NM_001308334:exon15:c.A1843G:p.T615A,RPGRIP1L:NM_015272:exon15:c.A1843G:p.T615A	16q12.2	.	.	0.57	T	0.0	B	0.001	B	0.151	N	0.987	N	-0.41	N	-2.33	D	-0.98	N	0.136	0.765	9.247	0.887	0.756	D	-0.841	T	0.299	T	0.638	0	3.15	0.042	0.081	0.981	0.992	8.258	Tolerated
1497	16	56336763	G	A	Pathogenic	GNAO1	.	.	.	.	.	.	.	.	.	.	16	56336763	56336763	G	A	exonic	GNAO1	.	nonsynonymous SNV	GNAO1:NM_020988:exon6:c.G626A:p.R209H,GNAO1:NM_138736:exon6:c.G626A:p.R209H	16q13	.	rs797044878	0.0	D	1.0	D	1.0	D	0.000	D	1	D	3.995	H	-3.14	D	-4.72	D	0.938	7.668	35	1.000	0.963	D	1.087	D	0.926	D	0.696	0	5.29	0.917	1.048	0.998	1.000	18.958	Deleterious
1498	16	56351396	G	A	Pathogenic	GNAO1	.	.	.	.	.	.	.	.	.	.	16	56351396	56351396	G	A	exonic	GNAO1	.	nonsynonymous SNV	GNAO1:NM_020988:exon7:c.G736A:p.E246K	16q13	.	rs797044951	0.0	D	1.0	D	1.0	D	0.000	D	1	D	4.28	H	-2.69	D	-3.8	D	0.963	3.185	22.7	0.999	0.990	D	1.058	D	0.922	D	0.646	0	5.91	0.917	1.048	1.000	1.000	20.295	Deleterious
1499	16	56502790	C	T	Pathogenic	BBS2	.	.	.	.	.	.	.	.	.	.	16	56502790	56502790	C	T	exonic	BBS2	.	synonymous SNV	BBS2:NM_031885:exon8:c.C823A:p.R275R	16q13	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
1500	16	57659534	C	T	Pathogenic	ADGRG1	.	.	.	.	.	.	.	.	.	.	16	57659534	57659534	C	T	exonic	ADGRG1	.	stopgain	ADGRG1:NM_001145773:exon11:c.C1423T:p.R475X,ADGRG1:NM_001290142:exon11:c.C916T:p.R306X,ADGRG1:NM_001290143:exon11:c.C901T:p.R301X,ADGRG1:NM_001290144:exon11:c.C883T:p.R295X,ADGRG1:NM_201525:exon11:c.C1408T:p.R470X,ADGRG1:NM_001145770:exon12:c.C1408T:p.R470X,ADGRG1:NM_001145771:exon12:c.C1426T:p.R476X,ADGRG1:NM_001145772:exon12:c.C1408T:p.R470X,ADGRG1:NM_001145774:exon12:c.C1408T:p.R470X,ADGRG1:NM_005682:exon12:c.C1426T:p.R476X,ADGRG1:NM_201524:exon12:c.C1408T:p.R470X	16q21	.	rs587783652	.	.	.	.	.	.	0.339	N	1	A	.	.	.	.	.	.	.	8.535	35	0.981	0.104	N	.	.	.	.	0.707	0	-0.729	0.871	0.892	0.646	0.044	3.838	Deleterious (DANN)
1501	16	68811854	C	T	Pathogenic	CDH1	.	.	.	.	.	.	.	.	.	.	16	68811854	68811854	C	T	exonic	CDH1	.	stopgain	CDH1:NM_001317184:exon7:c.C1003T:p.R335X,CDH1:NM_004360:exon7:c.C1003T:p.R335X	16q22.1	.	rs587780784	.	.	.	.	.	.	0.000	D	1	A	.	.	.	.	.	.	.	12.065	38	0.998	0.844	D	.	.	.	.	0.632	0	3.22	-0.058	0.935	0.998	1.000	13.393	Deleterious (FATHMM)
1502	16	68812264	G	A	Pathogenic	CDH1	.	.	.	.	.	.	.	.	.	.	16	68812264	68812264	G	A	splicing	CDH1	NM_001317184:exon8:c.1137+1G>A,NM_004360:exon8:c.1137+1G>A	.	.	16q22.1	.	.	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	4.444	24.2	0.990	0.990	D	.	.	.	.	0.162	0	5.72	0.917	1.048	0.995	0.268	19.481	Deleterious (FATHMM)
1503	16	68815760	G	A	Pathogenic	CDH1	.	.	.	.	.	.	.	.	.	.	16	68815760	68815760	G	A	splicing	CDH1	NM_001317184:exon9:c.1382+1G>A,NM_001317185:exon10:c.17+1G>A,NM_004360:exon10:c.1565+1G>A	.	.	16q22.1	.	rs587780113	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	5.771	27.0	0.995	0.996	D	.	.	.	.	0.295	0	5.72	0.917	1.045	0.928	0.960	18.450	Deleterious (FATHMM)
1504	16	68828296	G	T	Pathogenic	CDH1	.	.	.	.	.	.	.	.	.	.	16	68828296	68828296	G	T	exonic	CDH1	.	stopgain	CDH1:NM_001317184:exon13:c.G2104T:p.E702X,CDH1:NM_001317186:exon13:c.G322T:p.E108X,CDH1:NM_001317185:exon14:c.G739T:p.E247X,CDH1:NM_004360:exon14:c.G2287T:p.E763X	16q22.1	.	rs587780787	.	.	.	.	.	.	0.000	D	1	A	.	.	.	.	.	.	.	15.666	52	0.997	0.988	D	.	.	.	.	0.672	0	5.35	0.917	0.953	0.994	0.990	19.030	Deleterious (FATHMM)
1505	16	70268356	G	A	Pathogenic	AARS	.	.	.	.	.	.	.	.	.	.	16	70268356	70268356	G	A	exonic	AARS	.	nonsynonymous SNV	AARS:NM_001605:exon8:c.G986T:p.R329L	16q22.1	.	.	0.0	D	1.0	D	0.999	D	0.000	D	1	D	4.65	H	-3.23	D	-6.9	D	0.978	8.071	35	0.999	0.993	D	1.098	D	0.948	D	0.719	0	5.66	0.871	0.935	0.998	0.995	17.294	Deleterious
1506	16	72014641	C	T	Pathogenic/Likely pathogenic	DHODH	.	.	.	.	.	.	.	.	.	.	16	72014641	72014641	C	T	exonic	DHODH	.	nonsynonymous SNV	DHODH:NM_001361:exon3:c.C403T:p.R135C	16q22.2	0.0004	rs201230446	0.0	D	1.0	D	1.0	D	0.000	D	1	A	4.255	H	-2.21	D	-7.6	D	0.985	7.553	34	0.973	0.917	D	1.044	D	0.883	D	0.707	0	5.29	0.871	0.852	0.947	0.984	17.908	Deleterious
1507	16	81357003	G	A	Pathogenic	GAN	.	.	.	.	.	.	.	.	.	.	16	81357003	81357003	G	A	splicing	GAN	NM_022041:exon4:c.851+1G>A	.	.	16q23.2	.	rs747291494	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	4.299	24.0	0.993	0.998	D	.	.	.	.	0.099	0	5.82	0.917	1.048	0.983	0.636	20.101	Deleterious (FATHMM)
1508	16	88824853	C	T	Pathogenic	GALNS	.	.	.	.	.	.	.	.	.	.	16	88824853	88824853	C	T	exonic	GALNS	.	nonsynonymous SNV	GALNS:NM_000512:exon11:c.C1156A:p.R386S	16q24.3	.	.	0.012	D	1.0	D	1.0	D	0.000	D	1	D	1.295	L	-2.5	D	-4.22	D	0.912	6.217	28.8	0.996	0.932	D	0.385	D	0.732	D	0.713	0	4.68	0.917	0.953	0.873	0.495	17.591	Deleterious
1509	16	88840993	T	A	Pathogenic/Likely pathogenic	GALNS	.	.	.	.	.	.	.	.	.	.	16	88840993	88840993	T	A	exonic	GALNS	.	synonymous SNV	GALNS:NM_000512:exon4:c.T421T:p.W141W	16q24.3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
1510	16	88841077	A	T	Pathogenic	GALNS	.	.	.	.	.	.	.	.	.	.	16	88841077	88841077	A	T	exonic	GALNS	.	synonymous SNV	GALNS:NM_000512:exon4:c.A337A:p.I113I	16q24.3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
1511	16	89154148	C	T	Pathogenic	ACSF3	.	.	.	.	.	.	.	.	.	.	16	89154148	89154148	C	T	exonic	ACSF3	.	nonsynonymous SNV	ACSF3:NM_001284316:exon9:c.C877T:p.R293W,ACSF3:NM_001127214:exon10:c.C1672T:p.R558W,ACSF3:NM_001243279:exon11:c.C1672T:p.R558W,ACSF3:NM_174917:exon11:c.C1672T:p.R558W	16q24.3	0.0035	rs141090143	0.0	D	1.0	D	0.999	D	0.000	D	0.993	D	3.87	H	0.22	T	-5.76	D	0.848	5.987	27.8	0.998	0.382	N	-0.032	T	0.400	T	0.635	0	1.37	0.868	-0.058	0.991	0.880	11.304	Tolerated
1512	16	89275092	G	A	Pathogenic	ANKRD11	.	.	.	.	.	.	.	.	.	.	16	89275092	89275092	G	A	splicing	ANKRD11	NM_013275:exon10:c.7569+1C>T,NM_001256183:exon10:c.7569+1C>T,NM_001256182:exon11:c.7569+1C>T	.	.	16q24.3	.	.	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	6.024	27.9	0.995	0.984	D	.	.	.	.	0.099	0	5.16	0.871	0.935	0.988	0.918	18.611	Deleterious (FATHMM)
1513	16	89510539	T	A	Pathogenic	SPG7	.	.	.	.	.	.	.	.	.	.	16	89510539	89510539	T	A	exonic	SPG7	.	stopgain	SPG7:NM_003119:exon2:c.T233A:p.L78X,SPG7:NM_199367:exon2:c.T233A:p.L78X	16q24.3	7.7e-05	rs121918358	.	.	.	.	.	.	0.894	N	1	A	.	.	.	.	.	.	.	4.296	24.0	0.905	0.128	N	.	.	.	.	0.707	0	0.04	0.991	1.058	0.988	0.417	6.847
1514	16	89531903	G	A	Pathogenic/Likely pathogenic	SPG7	.	.	.	.	.	.	.	.	.	.	16	89531903	89531903	G	A	splicing	SPG7	NM_003119:exon8:c.988-1G>A,NM_199367:exon8:c.988-1G>A	.	.	16q24.3	.	rs748309520	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	4.640	24.5	0.993	0.992	D	.	.	.	.	0.257	0	5.85	0.917	1.048	0.866	0.640	20.236	Deleterious (FATHMM)
1515	16	89531961	G	A	Pathogenic	SPG7	.	.	.	.	.	.	.	.	.	.	16	89531961	89531961	G	A	exonic	SPG7	.	nonsynonymous SNV	SPG7:NM_003119:exon8:c.G1045A:p.G349S,SPG7:NM_199367:exon8:c.G1045A:p.G349S	16q24.3	0.0012	rs141659620	0.0	D	1.0	D	1.0	D	0.000	D	1	A	4.195	H	-8.02	D	-5.49	D	0.989	6.590	31	0.998	0.978	D	0.925	D	0.998	D	0.722	0	5.85	0.917	1.048	0.375	0.114	20.236	Deleterious
1516	16	89546737	C	T	Pathogenic/Likely pathogenic	SPG7	.	.	.	.	.	.	.	.	.	.	16	89546737	89546737	C	T	exonic	SPG7	.	nonsynonymous SNV	SPG7:NM_003119:exon11:c.C1529T:p.A510V	16q24.3	0.0035	rs61755320	0.001	D	1.0	D	0.994	D	0.000	D	1	D	2.575	M	-3.83	D	-3.88	D	0.976	6.631	32	0.999	0.968	D	1.057	D	0.927	D	0.707	0	5.42	0.871	0.935	0.996	0.997	19.218	Deleterious
1517	16	89651586	C	T	Pathogenic	CHMP1A	.	.	.	.	.	.	.	.	.	.	16	89651586	89651586	C	T	exonic	CHMP1A	.	nonsynonymous SNV	CHMP1A:NM_001083314:exon2:c.C68A:p.A23E,CHMP1A:NM_002768:exon3:c.C88A:p.Q30K	16q24.3	.	.	1.0	T	0.001	B	0.004	B	.	.	1	D	-1.585	N	-0.48	T	1.1	N	0.716	1.595	13.82	0.623	0.994	D	-0.856	T	0.091	T	0.707	0	4.81	0.917	0.953	0.999	0.988	18.237	Tolerated
1518	16	89746890	A	G	Pathogenic	FANCA	.	.	.	.	.	.	.	.	.	.	16	89746890	89746890	A	G	exonic	FANCA	.	synonymous SNV	FANCA:NM_000135:exon34:c.A3349C:p.R1117R,FANCA:NM_001286167:exon34:c.A3349C:p.R1117R	16q24.3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
1519	17	2670193	C	T	Pathogenic	PAFAH1B1	.	.	.	.	.	.	.	.	.	.	17	2670193	2670193	C	T	exonic	PAFAH1B1	.	stopgain	PAFAH1B1:NM_000430:exon6:c.C430T:p.R144X	17p13.3	.	rs587784267	.	.	.	.	.	.	0.000	D	1	A	.	.	.	.	.	.	.	11.904	38	0.998	0.969	D	.	.	.	.	0.707	0	4.91	0.871	0.848	0.998	1.000	14.567	Deleterious (FATHMM)
1520	17	2674205	C	T	Pathogenic	PAFAH1B1	.	.	.	.	.	.	.	.	.	.	17	2674205	2674205	C	T	exonic	PAFAH1B1	.	stopgain	PAFAH1B1:NM_000430:exon8:c.C817T:p.R273X	17p13.3	.	rs121434483	.	.	.	.	.	.	0.000	D	1	A	.	.	.	.	.	.	.	13.887	43	0.998	0.962	D	.	.	.	.	0.707	0	5.74	0.871	0.852	1.000	1.000	13.839	Deleterious (FATHMM)
1521	17	3494408	C	A	Pathogenic	ASPA|SPATA22	.	.	.	.	.	.	.	.	.	.	17	3494408	3494408	C	A	exonic	ASPA	.	stopgain	ASPA:NM_000049:exon5:c.C693A:p.Y231X,ASPA:NM_001128085:exon6:c.C693A:p.Y231X	17p13.2	.	rs12948217	.	.	.	.	.	.	0.000	D	1	D	.	.	.	.	.	.	.	10.398	36	0.997	0.810	D	.	.	.	.	0.487	0	3.51	-0.328	-0.215	0.660	0.994	8.284	Deleterious (FATHMM)
1522	17	3499000	A	C	Pathogenic	ASPA|SPATA22	.	.	.	.	.	.	.	.	.	.	17	3499000	3499000	A	C	exonic	ASPA	.	nonsynonymous SNV	ASPA:NM_000049:exon6:c.A854C:p.E285A,ASPA:NM_001128085:exon7:c.A854C:p.E285A	17p13.2	0.0002	rs28940279	0.0	D	1.0	D	1.0	D	0.000	D	1	A	3.18	M	-4.66	D	-5.64	D	0.94	4.724	24.6	0.995	0.984	D	1.143	D	0.959	D	0.554	0	4.68	1.062	1.140	0.992	0.681	11.195	Deleterious
1523	17	6425781	G	A	Pathogenic	AIPL1	.	.	.	.	.	.	.	.	.	.	17	6425781	6425781	G	A	exonic	AIPL1	.	nonsynonymous SNV	AIPL1:NM_001033054:exon5:c.G645T:p.W215C,AIPL1:NM_001033055:exon5:c.G654T:p.W218C,AIPL1:NM_001285399:exon6:c.G798T:p.W266C,AIPL1:NM_001285400:exon6:c.G768T:p.W256C,AIPL1:NM_001285401:exon6:c.G762T:p.W254C,AIPL1:NM_001285402:exon6:c.G717T:p.W239C,AIPL1:NM_014336:exon6:c.G834T:p.W278C	17p13.2	.	.	0.015	D	1.0	D	1.0	D	0.000	D	1	D	2.075	M	0.26	T	-11.64	D	0.758	6.236	28.8	0.990	0.988	D	0.607	D	0.760	D	0.428	0	5.14	0.871	0.935	0.990	0.952	16.071	Deleterious
1524	17	7221966	G	A	Pathogenic/Likely pathogenic	ACADVL	.	.	.	.	.	.	.	.	.	.	17	7221966	7221966	G	A	exonic	ACADVL	.	nonsynonymous SNV	ACADVL:NM_001033859:exon7:c.G571A:p.A191T,ACADVL:NM_001270448:exon7:c.G409A:p.A137T,ACADVL:NM_000018:exon8:c.G637A:p.A213T,ACADVL:NM_001270447:exon9:c.G706A:p.A236T	17p13.1	.	rs140629318	0.001	D	1.0	D	0.999	D	0.000	D	1	D	2.95	M	-4.0	D	-3.79	D	0.933	6.572	31	0.999	0.972	D	1.088	D	0.947	D	0.672	0	5.73	0.917	1.048	0.753	0.911	17.386	Deleterious
1525	17	7222272	T	C	Pathogenic	ACADVL	.	.	.	.	.	.	.	.	.	.	17	7222272	7222272	T	C	exonic	ACADVL	.	nonsynonymous SNV	ACADVL:NM_001033859:exon8:c.T782C:p.V261A,ACADVL:NM_001270448:exon8:c.T620C:p.V207A,ACADVL:NM_000018:exon9:c.T848C:p.V283A,ACADVL:NM_001270447:exon10:c.T917C:p.V306A	17p13.1	0.0009	rs113994167	0.0	D	0.605	P	0.47	P	0.000	D	1.000	A	0.95	L	-5.34	D	-3.98	D	0.889	5.413	26.0	0.998	0.951	D	1.204	D	0.921	D	0.672	0	5.22	0.991	1.061	0.999	1.000	13.069	Deleterious
1526	17	7223151	C	T	Pathogenic	ACADVL	.	.	.	.	.	.	.	.	.	.	17	7223151	7223151	C	T	exonic	ACADVL	.	nonsynonymous SNV	ACADVL:NM_001033859:exon10:c.C1030T:p.R344C,ACADVL:NM_001270448:exon10:c.C868T:p.R290C,ACADVL:NM_000018:exon11:c.C1096T:p.R366C,ACADVL:NM_001270447:exon12:c.C1165T:p.R389C	17p13.1	.	rs771874163	0.0	D	1.0	D	1.0	D	0.000	D	1	D	4.88	H	-5.06	D	-7.73	D	0.988	7.472	34	0.999	0.880	D	0.994	D	0.987	D	0.672	0	5.62	0.871	0.932	0.997	1.000	17.142	Deleterious
1527	17	7223865	G	A	Pathogenic	ACADVL	.	.	.	.	.	.	.	.	.	.	17	7223865	7223865	G	A	exonic	ACADVL	.	nonsynonymous SNV	ACADVL:NM_001033859:exon12:c.G1256A:p.G419D,ACADVL:NM_001270448:exon12:c.G1094A:p.G365D,ACADVL:NM_000018:exon13:c.G1322A:p.G441D,ACADVL:NM_001270447:exon14:c.G1391A:p.G464D	17p13.1	.	rs2309689	0.0	D	1.0	D	0.995	D	0.000	D	1	A	4.53	H	-5.53	D	-6.53	D	0.997	6.314	29.2	0.949	0.967	D	1.004	D	0.987	D	0.672	0	5.77	0.917	1.048	1.000	1.000	17.535	Deleterious
1528	17	7224041	G	A	Pathogenic/Likely pathogenic	ACADVL	.	.	.	.	.	.	.	.	.	.	17	7224041	7224041	G	A	exonic	ACADVL	.	nonsynonymous SNV	ACADVL:NM_001033859:exon13:c.G1340A:p.R447Q,ACADVL:NM_001270448:exon13:c.G1178A:p.R393Q,ACADVL:NM_000018:exon14:c.G1406A:p.R469Q,ACADVL:NM_001270447:exon15:c.G1475A:p.R492Q	17p13.1	.	rs398123083	0.001	D	1.0	D	1.0	D	0.000	D	1	D	2.835	M	-4.17	D	-3.83	D	0.986	7.353	34	0.995	0.984	D	1.076	D	0.942	D	0.672	0	5.74	0.917	1.048	0.987	0.994	15.412	Deleterious
1529	17	7224636	G	A	Pathogenic/Likely pathogenic	ACADVL	.	.	.	.	.	.	.	.	.	.	17	7224636	7224636	G	A	intronic	ACADVL	.	.	.	17p13.1	7.8e-05	rs113994171	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	probably Tolerated (Intron)
1530	17	7224966	C	T	Pathogenic/Likely pathogenic	ACADVL	.	.	.	.	.	.	.	.	.	.	17	7224966	7224966	C	T	exonic	ACADVL	.	nonsynonymous SNV	ACADVL:NM_001033859:exon19:c.C1771T:p.R591W,ACADVL:NM_001270448:exon19:c.C1609T:p.R537W,ACADVL:NM_000018:exon20:c.C1837T:p.R613W,ACADVL:NM_001270447:exon21:c.C1906T:p.R636W	17p13.1	.	rs118204014	0.0	D	1.0	D	1.0	D	0.000	D	1	A	2.99	M	-1.39	T	-7.39	D	0.947	7.594	34	0.974	0.826	D	0.603	D	0.729	D	0.672	0	5.74	0.871	0.935	0.826	0.989	17.412	Deleterious
1531	17	7669692	A	G	Pathogenic	TP53	.	.	.	.	.	.	.	.	.	.	17	7669692	7669692	A	G	splicing	TP53	NM_000546:exon11:c.1101-2T>C,NM_001126112:exon11:c.1101-2T>C,NM_001126114:exon12:c.1234-2T>C,NM_001276697:exon7:c.624-2T>C,NM_001276696:exon12:c.1117-2T>C,NM_001276695:exon12:c.1044-2T>C,NM_001276761:exon11:c.984-2T>C,NM_001276760:exon11:c.984-2T>C,NM_001276699:exon8:c.684-2T>C,NM_001276698:exon8:c.757-2T>C,NM_001126118:exon10:c.984-2T>C,NM_001126117:exon8:c.765-2T>C,NM_001126116:exon8:c.838-2T>C,NM_001126115:exon7:c.705-2T>C,NM_001126113:exon12:c.1161-2T>C	.	.	17p13.1	.	.	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	4.523	24.3	0.992	0.907	D	.	.	.	.	0.295	0	5.31	0.991	1.058	0.985	0.891	11.571	Deleterious (FATHMM)
1532	17	7670685	C	T	Pathogenic	TP53	.	.	.	.	.	.	.	.	.	.	17	7670685	7670685	C	T	exonic	TP53	.	synonymous SNV	TP53:NM_001126115:exon6:c.C628A:p.R210R,TP53:NM_001276697:exon6:c.C547A:p.R183R,TP53:NM_001126118:exon9:c.C907A:p.R303R,TP53:NM_000546:exon10:c.C1024A:p.R342R,TP53:NM_001126112:exon10:c.C1024A:p.R342R,TP53:NM_001276760:exon10:c.C907A:p.R303R,TP53:NM_001276761:exon10:c.C907A:p.R303R	17p13.1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
1533	17	7670699	G	A	Pathogenic	TP53	.	.	.	.	.	.	.	.	.	.	17	7670699	7670699	G	A	exonic	TP53	.	nonsynonymous SNV	TP53:NM_001126115:exon6:c.G614T:p.R205L,TP53:NM_001276697:exon6:c.G533T:p.R178L,TP53:NM_001126118:exon9:c.G893T:p.R298L,TP53:NM_000546:exon10:c.G1010T:p.R337L,TP53:NM_001126112:exon10:c.G1010T:p.R337L,TP53:NM_001276760:exon10:c.G893T:p.R298L,TP53:NM_001276761:exon10:c.G893T:p.R298L	17p13.1	.	rs121912664	0.018	D	0.995	D	0.946	D	0.000	D	1	D	2.585	M	-3.62	D	-4.12	D	0.627	6.150	28.5	0.997	0.826	D	0.888	D	0.888	D	0.707	0	3.45	0.871	0.852	0.967	0.881	9.887	Deleterious
1534	17	7673704	C	T	Pathogenic	TP53	.	.	.	.	.	.	.	.	.	.	17	7673704	7673704	C	T	exonic	TP53	.	synonymous SNV	TP53:NM_001126115:exon4:c.C520A:p.R174R,TP53:NM_001126116:exon4:c.C520A:p.R174R,TP53:NM_001126117:exon4:c.C520A:p.R174R,TP53:NM_001276697:exon4:c.C439A:p.R147R,TP53:NM_001276698:exon4:c.C439A:p.R147R,TP53:NM_001276699:exon4:c.C439A:p.R147R,TP53:NM_001126118:exon7:c.C799A:p.R267R,TP53:NM_000546:exon8:c.C916A:p.R306R,TP53:NM_001126112:exon8:c.C916A:p.R306R,TP53:NM_001126113:exon8:c.C916A:p.R306R,TP53:NM_001126114:exon8:c.C916A:p.R306R,TP53:NM_001276695:exon8:c.C799A:p.R267R,TP53:NM_001276696:exon8:c.C799A:p.R267R,TP53:NM_001276760:exon8:c.C799A:p.R267R,TP53:NM_001276761:exon8:c.C799A:p.R267R	17p13.1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
1535	17	7673728	G	T	Pathogenic	TP53	.	.	.	.	.	.	.	.	.	.	17	7673728	7673728	G	T	exonic	TP53	.	nonsynonymous SNV	TP53:NM_001126115:exon4:c.G496A:p.E166K,TP53:NM_001126116:exon4:c.G496A:p.E166K,TP53:NM_001126117:exon4:c.G496A:p.E166K,TP53:NM_001276697:exon4:c.G415A:p.E139K,TP53:NM_001276698:exon4:c.G415A:p.E139K,TP53:NM_001276699:exon4:c.G415A:p.E139K,TP53:NM_001126118:exon7:c.G775A:p.E259K,TP53:NM_000546:exon8:c.G892A:p.E298K,TP53:NM_001126112:exon8:c.G892A:p.E298K,TP53:NM_001126113:exon8:c.G892A:p.E298K,TP53:NM_001126114:exon8:c.G892A:p.E298K,TP53:NM_001276695:exon8:c.G775A:p.E259K,TP53:NM_001276696:exon8:c.G775A:p.E259K,TP53:NM_001276760:exon8:c.G775A:p.E259K,TP53:NM_001276761:exon8:c.G775A:p.E259K	17p13.1	.	rs201744589	0.19	T	0.007	B	0.008	B	0.149	N	1	N	2.655	M	-5.42	D	-0.13	N	0.211	0.759	9.210	0.935	0.130	N	0.980	D	0.953	D	0.722	0	-4.03	-0.675	-0.324	0.001	0.000	5.949	Deleterious
1536	17	7673764	G	A	Pathogenic/Likely pathogenic	TP53	.	.	.	.	.	.	.	.	.	.	17	7673764	7673764	G	A	exonic	TP53	.	stopgain	TP53:NM_001126115:exon4:c.G460T:p.E154X,TP53:NM_001126116:exon4:c.G460T:p.E154X,TP53:NM_001126117:exon4:c.G460T:p.E154X,TP53:NM_001276697:exon4:c.G379T:p.E127X,TP53:NM_001276698:exon4:c.G379T:p.E127X,TP53:NM_001276699:exon4:c.G379T:p.E127X,TP53:NM_001126118:exon7:c.G739T:p.E247X,TP53:NM_000546:exon8:c.G856T:p.E286X,TP53:NM_001126112:exon8:c.G856T:p.E286X,TP53:NM_001126113:exon8:c.G856T:p.E286X,TP53:NM_001126114:exon8:c.G856T:p.E286X,TP53:NM_001276695:exon8:c.G739T:p.E247X,TP53:NM_001276696:exon8:c.G739T:p.E247X,TP53:NM_001276760:exon8:c.G739T:p.E247X,TP53:NM_001276761:exon8:c.G739T:p.E247X	17p13.1	.	.	.	.	.	.	.	.	0.000	D	1	A	.	.	.	.	.	.	.	11.557	37	0.997	0.996	D	.	.	.	.	0.722	0	4.99	0.871	0.932	0.991	0.995	15.807	Deleterious (FATHMM)
1537	17	7673778	A	T	Pathogenic/Likely pathogenic	TP53	.	.	.	.	.	.	.	.	.	.	17	7673778	7673778	A	T	exonic	TP53	.	synonymous SNV	TP53:NM_001126115:exon4:c.A446A:p.D149D,TP53:NM_001126116:exon4:c.A446A:p.D149D,TP53:NM_001126117:exon4:c.A446A:p.D149D,TP53:NM_001276697:exon4:c.A365A:p.D122D,TP53:NM_001276698:exon4:c.A365A:p.D122D,TP53:NM_001276699:exon4:c.A365A:p.D122D,TP53:NM_001126118:exon7:c.A725A:p.D242D,TP53:NM_000546:exon8:c.A842A:p.D281D,TP53:NM_001126112:exon8:c.A842A:p.D281D,TP53:NM_001126113:exon8:c.A842A:p.D281D,TP53:NM_001126114:exon8:c.A842A:p.D281D,TP53:NM_001276695:exon8:c.A725A:p.D242D,TP53:NM_001276696:exon8:c.A725A:p.D242D,TP53:NM_001276760:exon8:c.A725A:p.D242D,TP53:NM_001276761:exon8:c.A725A:p.D242D	17p13.1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
1538	17	7673796	G	A	Pathogenic/Likely pathogenic	TP53	.	.	.	.	.	.	.	.	.	.	17	7673796	7673796	G	A	exonic	TP53	.	nonsynonymous SNV	TP53:NM_001126115:exon4:c.G428T:p.C143F,TP53:NM_001126116:exon4:c.G428T:p.C143F,TP53:NM_001126117:exon4:c.G428T:p.C143F,TP53:NM_001276697:exon4:c.G347T:p.C116F,TP53:NM_001276698:exon4:c.G347T:p.C116F,TP53:NM_001276699:exon4:c.G347T:p.C116F,TP53:NM_001126118:exon7:c.G707T:p.C236F,TP53:NM_000546:exon8:c.G824T:p.C275F,TP53:NM_001126112:exon8:c.G824T:p.C275F,TP53:NM_001126113:exon8:c.G824T:p.C275F,TP53:NM_001126114:exon8:c.G824T:p.C275F,TP53:NM_001276695:exon8:c.G707T:p.C236F,TP53:NM_001276696:exon8:c.G707T:p.C236F,TP53:NM_001276760:exon8:c.G707T:p.C236F,TP53:NM_001276761:exon8:c.G707T:p.C236F	17p13.1	.	.	0.0	D	1.0	D	1.0	D	0.000	D	1	D	3.34	M	-7.39	D	-9.51	D	0.995	7.423	34	0.994	0.997	D	0.923	D	0.994	D	0.722	0	4.92	0.871	0.932	0.998	0.997	15.662	Deleterious
1539	17	7673802	G	A	Pathogenic	TP53	.	.	.	.	.	.	.	.	.	.	17	7673802	7673802	G	A	exonic	TP53	.	nonsynonymous SNV	TP53:NM_001126115:exon4:c.G422T:p.R141L,TP53:NM_001126116:exon4:c.G422T:p.R141L,TP53:NM_001126117:exon4:c.G422T:p.R141L,TP53:NM_001276697:exon4:c.G341T:p.R114L,TP53:NM_001276698:exon4:c.G341T:p.R114L,TP53:NM_001276699:exon4:c.G341T:p.R114L,TP53:NM_001126118:exon7:c.G701T:p.R234L,TP53:NM_000546:exon8:c.G818T:p.R273L,TP53:NM_001126112:exon8:c.G818T:p.R273L,TP53:NM_001126113:exon8:c.G818T:p.R273L,TP53:NM_001126114:exon8:c.G818T:p.R273L,TP53:NM_001276695:exon8:c.G701T:p.R234L,TP53:NM_001276696:exon8:c.G701T:p.R234L,TP53:NM_001276760:exon8:c.G701T:p.R234L,TP53:NM_001276761:exon8:c.G701T:p.R234L	17p13.1	.	rs28934576	0.0	D	1.0	D	0.99	D	0.000	D	1	D	3.145	M	-7.3	D	-6.04	D	0.997	7.449	34	0.998	0.996	D	0.928	D	0.994	D	0.722	0	4.92	0.871	0.932	0.975	0.792	15.662	Deleterious
1540	17	7674220	G	A	Pathogenic/Likely pathogenic	TP53	.	.	.	.	.	.	.	.	.	.	17	7674220	7674220	G	A	exonic	TP53	.	nonsynonymous SNV	TP53:NM_001126115:exon3:c.G347T:p.R116L,TP53:NM_001126116:exon3:c.G347T:p.R116L,TP53:NM_001126117:exon3:c.G347T:p.R116L,TP53:NM_001276697:exon3:c.G266T:p.R89L,TP53:NM_001276698:exon3:c.G266T:p.R89L,TP53:NM_001276699:exon3:c.G266T:p.R89L,TP53:NM_001126118:exon6:c.G626T:p.R209L,TP53:NM_000546:exon7:c.G743T:p.R248L,TP53:NM_001126112:exon7:c.G743T:p.R248L,TP53:NM_001126113:exon7:c.G743T:p.R248L,TP53:NM_001126114:exon7:c.G743T:p.R248L,TP53:NM_001276695:exon7:c.G626T:p.R209L,TP53:NM_001276696:exon7:c.G626T:p.R209L,TP53:NM_001276760:exon7:c.G626T:p.R209L,TP53:NM_001276761:exon7:c.G626T:p.R209L	17p13.1	.	.	0.0	D	1.0	D	0.999	D	0.000	D	1.000	D	3.315	M	-7.3	D	-6.11	D	0.936	7.456	34	0.998	0.987	D	0.968	D	0.994	D	0.722	0	3.65	0.033	0.848	0.928	0.944	10.669	Deleterious
1541	17	7674221	C	T	Pathogenic/Likely pathogenic	TP53	.	.	.	.	.	.	.	.	.	.	17	7674221	7674221	C	T	exonic	TP53	.	synonymous SNV	TP53:NM_001126115:exon3:c.C346A:p.R116R,TP53:NM_001126116:exon3:c.C346A:p.R116R,TP53:NM_001126117:exon3:c.C346A:p.R116R,TP53:NM_001276697:exon3:c.C265A:p.R89R,TP53:NM_001276698:exon3:c.C265A:p.R89R,TP53:NM_001276699:exon3:c.C265A:p.R89R,TP53:NM_001126118:exon6:c.C625A:p.R209R,TP53:NM_000546:exon7:c.C742A:p.R248R,TP53:NM_001126112:exon7:c.C742A:p.R248R,TP53:NM_001126113:exon7:c.C742A:p.R248R,TP53:NM_001126114:exon7:c.C742A:p.R248R,TP53:NM_001276695:exon7:c.C625A:p.R209R,TP53:NM_001276696:exon7:c.C625A:p.R209R,TP53:NM_001276760:exon7:c.C625A:p.R209R,TP53:NM_001276761:exon7:c.C625A:p.R209R	17p13.1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
1542	17	7674227	A	G	Pathogenic/Likely pathogenic	TP53	.	.	.	.	.	.	.	.	.	.	17	7674227	7674227	A	G	exonic	TP53	.	nonsynonymous SNV	TP53:NM_001126115:exon3:c.A340C:p.M114L,TP53:NM_001126116:exon3:c.A340C:p.M114L,TP53:NM_001126117:exon3:c.A340C:p.M114L,TP53:NM_001276697:exon3:c.A259C:p.M87L,TP53:NM_001276698:exon3:c.A259C:p.M87L,TP53:NM_001276699:exon3:c.A259C:p.M87L,TP53:NM_001126118:exon6:c.A619C:p.M207L,TP53:NM_000546:exon7:c.A736C:p.M246L,TP53:NM_001126112:exon7:c.A736C:p.M246L,TP53:NM_001126113:exon7:c.A736C:p.M246L,TP53:NM_001126114:exon7:c.A736C:p.M246L,TP53:NM_001276695:exon7:c.A619C:p.M207L,TP53:NM_001276696:exon7:c.A619C:p.M207L,TP53:NM_001276760:exon7:c.A619C:p.M207L,TP53:NM_001276761:exon7:c.A619C:p.M207L	17p13.1	.	rs483352695	0.098	T	0.995	D	0.991	D	0.000	D	1.000	D	1.72	L	-6.69	D	-2.61	D	0.748	5.855	27.3	0.979	0.990	D	1.075	D	0.982	D	0.722	0	3.54	0.991	0.961	1.000	0.996	8.419	Deleterious
1543	17	7674229	G	A	Pathogenic	TP53	.	.	.	.	.	.	.	.	.	.	17	7674229	7674229	G	A	exonic	TP53	.	nonsynonymous SNV	TP53:NM_001126115:exon3:c.G338T:p.G113V,TP53:NM_001126116:exon3:c.G338T:p.G113V,TP53:NM_001126117:exon3:c.G338T:p.G113V,TP53:NM_001276697:exon3:c.G257T:p.G86V,TP53:NM_001276698:exon3:c.G257T:p.G86V,TP53:NM_001276699:exon3:c.G257T:p.G86V,TP53:NM_001126118:exon6:c.G617T:p.G206V,TP53:NM_000546:exon7:c.G734T:p.G245V,TP53:NM_001126112:exon7:c.G734T:p.G245V,TP53:NM_001126113:exon7:c.G734T:p.G245V,TP53:NM_001126114:exon7:c.G734T:p.G245V,TP53:NM_001276695:exon7:c.G617T:p.G206V,TP53:NM_001276696:exon7:c.G617T:p.G206V,TP53:NM_001276760:exon7:c.G617T:p.G206V,TP53:NM_001276761:exon7:c.G617T:p.G206V	17p13.1	.	rs121912656	0.0	D	1.0	D	1.0	D	0.000	D	1	D	3.255	M	-7.62	D	-7.82	D	0.992	6.984	33	0.998	0.993	D	0.903	D	0.995	D	0.722	0	4.62	0.871	0.848	0.999	0.987	15.362	Deleterious
1544	17	7674230	G	A	Pathogenic/Likely pathogenic	TP53	.	.	.	.	.	.	.	.	.	.	17	7674230	7674230	G	A	exonic	TP53	.	nonsynonymous SNV	TP53:NM_001126115:exon3:c.G337T:p.G113C,TP53:NM_001126116:exon3:c.G337T:p.G113C,TP53:NM_001126117:exon3:c.G337T:p.G113C,TP53:NM_001276697:exon3:c.G256T:p.G86C,TP53:NM_001276698:exon3:c.G256T:p.G86C,TP53:NM_001276699:exon3:c.G256T:p.G86C,TP53:NM_001126118:exon6:c.G616T:p.G206C,TP53:NM_000546:exon7:c.G733T:p.G245C,TP53:NM_001126112:exon7:c.G733T:p.G245C,TP53:NM_001126113:exon7:c.G733T:p.G245C,TP53:NM_001126114:exon7:c.G733T:p.G245C,TP53:NM_001276695:exon7:c.G616T:p.G206C,TP53:NM_001276696:exon7:c.G616T:p.G206C,TP53:NM_001276760:exon7:c.G616T:p.G206C,TP53:NM_001276761:exon7:c.G616T:p.G206C	17p13.1	.	rs28934575	0.0	D	1.0	D	1.0	D	0.000	D	1	D	3.255	M	-7.65	D	-7.85	D	0.991	7.765	35	0.997	0.993	D	0.903	D	0.995	D	0.722	0	4.62	0.871	0.848	0.998	0.973	15.362	Deleterious
1545	17	7674238	G	A	Pathogenic	TP53	.	.	.	.	.	.	.	.	.	.	17	7674238	7674238	G	A	exonic	TP53	.	nonsynonymous SNV	TP53:NM_001126115:exon3:c.G329T:p.C110F,TP53:NM_001126116:exon3:c.G329T:p.C110F,TP53:NM_001126117:exon3:c.G329T:p.C110F,TP53:NM_001276697:exon3:c.G248T:p.C83F,TP53:NM_001276698:exon3:c.G248T:p.C83F,TP53:NM_001276699:exon3:c.G248T:p.C83F,TP53:NM_001126118:exon6:c.G608T:p.C203F,TP53:NM_000546:exon7:c.G725T:p.C242F,TP53:NM_001126112:exon7:c.G725T:p.C242F,TP53:NM_001126113:exon7:c.G725T:p.C242F,TP53:NM_001126114:exon7:c.G725T:p.C242F,TP53:NM_001276695:exon7:c.G608T:p.C203F,TP53:NM_001276696:exon7:c.G608T:p.C203F,TP53:NM_001276760:exon7:c.G608T:p.C203F,TP53:NM_001276761:exon7:c.G608T:p.C203F	17p13.1	.	.	0.0	D	1.0	D	1.0	D	0.000	D	1	D	3.345	M	-7.99	D	-9.51	D	0.989	7.089	33	0.993	0.993	D	0.877	D	0.997	D	0.722	0	4.62	0.871	0.848	1.000	0.998	15.362	Deleterious
1546	17	7674262	A	G	Pathogenic/Likely pathogenic	TP53	.	.	.	.	.	.	.	.	.	.	17	7674262	7674262	A	G	exonic	TP53	.	nonsynonymous SNV	TP53:NM_001126115:exon3:c.A305C:p.Y102S,TP53:NM_001126116:exon3:c.A305C:p.Y102S,TP53:NM_001126117:exon3:c.A305C:p.Y102S,TP53:NM_001276697:exon3:c.A224C:p.Y75S,TP53:NM_001276698:exon3:c.A224C:p.Y75S,TP53:NM_001276699:exon3:c.A224C:p.Y75S,TP53:NM_001126118:exon6:c.A584C:p.Y195S,TP53:NM_000546:exon7:c.A701C:p.Y234S,TP53:NM_001126112:exon7:c.A701C:p.Y234S,TP53:NM_001126113:exon7:c.A701C:p.Y234S,TP53:NM_001126114:exon7:c.A701C:p.Y234S,TP53:NM_001276695:exon7:c.A584C:p.Y195S,TP53:NM_001276696:exon7:c.A584C:p.Y195S,TP53:NM_001276760:exon7:c.A584C:p.Y195S,TP53:NM_001276761:exon7:c.A584C:p.Y195S	17p13.1	.	.	0.0	D	1.0	D	1.0	D	0.001	D	1.000	D	2.93	M	-6.94	D	-6.11	D	0.841	5.686	26.8	0.989	0.952	D	1.038	D	0.991	D	0.722	0	3.49	0.991	0.961	1.000	1.000	9.020	Deleterious
1547	17	7674872	A	G	Pathogenic/Likely pathogenic	TP53	.	.	.	.	.	.	.	.	.	.	17	7674872	7674872	A	G	exonic	TP53	.	nonsynonymous SNV	TP53:NM_001126115:exon2:c.A263C:p.Y88S,TP53:NM_001126116:exon2:c.A263C:p.Y88S,TP53:NM_001126117:exon2:c.A263C:p.Y88S,TP53:NM_001276697:exon2:c.A182C:p.Y61S,TP53:NM_001276698:exon2:c.A182C:p.Y61S,TP53:NM_001276699:exon2:c.A182C:p.Y61S,TP53:NM_001126118:exon5:c.A542C:p.Y181S,TP53:NM_000546:exon6:c.A659C:p.Y220S,TP53:NM_001126112:exon6:c.A659C:p.Y220S,TP53:NM_001126113:exon6:c.A659C:p.Y220S,TP53:NM_001126114:exon6:c.A659C:p.Y220S,TP53:NM_001276695:exon6:c.A542C:p.Y181S,TP53:NM_001276696:exon6:c.A542C:p.Y181S,TP53:NM_001276760:exon6:c.A542C:p.Y181S,TP53:NM_001276761:exon6:c.A542C:p.Y181S	17p13.1	.	rs121912666	0.001	D	1.0	D	1.0	D	0.000	D	1	A	3.02	M	-7.03	D	-8.08	D	0.962	6.859	33	0.990	0.992	D	0.954	D	0.992	D	0.732	0	5.28	0.015	0.964	0.254	0.999	13.475	Deleterious
1548	17	7674893	G	A	Pathogenic	TP53	.	.	.	.	.	.	.	.	.	.	17	7674893	7674893	G	A	exonic	TP53	.	nonsynonymous SNV	TP53:NM_001126115:exon2:c.G242T:p.R81L,TP53:NM_001126116:exon2:c.G242T:p.R81L,TP53:NM_001126117:exon2:c.G242T:p.R81L,TP53:NM_001276697:exon2:c.G161T:p.R54L,TP53:NM_001276698:exon2:c.G161T:p.R54L,TP53:NM_001276699:exon2:c.G161T:p.R54L,TP53:NM_001126118:exon5:c.G521T:p.R174L,TP53:NM_000546:exon6:c.G638T:p.R213L,TP53:NM_001126112:exon6:c.G638T:p.R213L,TP53:NM_001126113:exon6:c.G638T:p.R213L,TP53:NM_001126114:exon6:c.G638T:p.R213L,TP53:NM_001276695:exon6:c.G521T:p.R174L,TP53:NM_001276696:exon6:c.G521T:p.R174L,TP53:NM_001276760:exon6:c.G521T:p.R174L,TP53:NM_001276761:exon6:c.G521T:p.R174L	17p13.1	.	.	0.0	D	1.0	D	1.0	D	0.000	D	1.000	D	3.315	M	-7.3	D	-6.26	D	0.92	7.379	34	0.998	0.994	D	0.949	D	0.994	D	0.722	0	4.32	0.871	0.852	0.117	0.999	11.781	Deleterious
1549	17	7674894	C	T	Pathogenic	TP53	.	.	.	.	.	.	.	.	.	.	17	7674894	7674894	C	T	exonic	TP53	.	synonymous SNV	TP53:NM_001126115:exon2:c.C241A:p.R81R,TP53:NM_001126116:exon2:c.C241A:p.R81R,TP53:NM_001126117:exon2:c.C241A:p.R81R,TP53:NM_001276697:exon2:c.C160A:p.R54R,TP53:NM_001276698:exon2:c.C160A:p.R54R,TP53:NM_001276699:exon2:c.C160A:p.R54R,TP53:NM_001126118:exon5:c.C520A:p.R174R,TP53:NM_000546:exon6:c.C637A:p.R213R,TP53:NM_001126112:exon6:c.C637A:p.R213R,TP53:NM_001126113:exon6:c.C637A:p.R213R,TP53:NM_001126114:exon6:c.C637A:p.R213R,TP53:NM_001276695:exon6:c.C520A:p.R174R,TP53:NM_001276696:exon6:c.C520A:p.R174R,TP53:NM_001276760:exon6:c.C520A:p.R174R,TP53:NM_001276761:exon6:c.C520A:p.R174R	17p13.1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
1550	17	7674945	C	T	Pathogenic	TP53	.	.	.	.	.	.	.	.	.	.	17	7674945	7674945	C	T	exonic	TP53	.	synonymous SNV	TP53:NM_001126115:exon2:c.C190A:p.R64R,TP53:NM_001126116:exon2:c.C190A:p.R64R,TP53:NM_001126117:exon2:c.C190A:p.R64R,TP53:NM_001276697:exon2:c.C109A:p.R37R,TP53:NM_001276698:exon2:c.C109A:p.R37R,TP53:NM_001276699:exon2:c.C109A:p.R37R,TP53:NM_001126118:exon5:c.C469A:p.R157R,TP53:NM_000546:exon6:c.C586A:p.R196R,TP53:NM_001126112:exon6:c.C586A:p.R196R,TP53:NM_001126113:exon6:c.C586A:p.R196R,TP53:NM_001126114:exon6:c.C586A:p.R196R,TP53:NM_001276695:exon6:c.C469A:p.R157R,TP53:NM_001276696:exon6:c.C469A:p.R157R,TP53:NM_001276760:exon6:c.C469A:p.R157R,TP53:NM_001276761:exon6:c.C469A:p.R157R	17p13.1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
1551	17	7675070	G	A	Pathogenic/Likely pathogenic	TP53	.	.	.	.	.	.	.	.	.	.	17	7675070	7675070	G	A	exonic	TP53	.	nonsynonymous SNV	TP53:NM_001126115:exon1:c.G146T:p.R49L,TP53:NM_001126116:exon1:c.G146T:p.R49L,TP53:NM_001126117:exon1:c.G146T:p.R49L,TP53:NM_001276697:exon1:c.G65T:p.R22L,TP53:NM_001276698:exon1:c.G65T:p.R22L,TP53:NM_001276699:exon1:c.G65T:p.R22L,TP53:NM_001126118:exon4:c.G425T:p.R142L,TP53:NM_000546:exon5:c.G542T:p.R181L,TP53:NM_001126112:exon5:c.G542T:p.R181L,TP53:NM_001126113:exon5:c.G542T:p.R181L,TP53:NM_001126114:exon5:c.G542T:p.R181L,TP53:NM_001276695:exon5:c.G425T:p.R142L,TP53:NM_001276696:exon5:c.G425T:p.R142L,TP53:NM_001276760:exon5:c.G425T:p.R142L,TP53:NM_001276761:exon5:c.G425T:p.R142L	17p13.1	.	rs397514495	0.241	T	0.973	D	0.859	P	0.000	D	1.000	D	1.515	L	-6.65	D	-0.4	N	0.741	6.205	28.7	0.996	0.870	D	1.046	D	0.980	D	0.722	0	4.28	0.033	0.935	0.623	0.888	13.409	Deleterious
1552	17	7675088	G	T	Pathogenic/Likely pathogenic	TP53	.	.	.	.	.	.	.	.	.	.	17	7675088	7675088	G	T	exonic	TP53	.	nonsynonymous SNV	TP53:NM_001126115:exon1:c.G128A:p.R43H,TP53:NM_001126116:exon1:c.G128A:p.R43H,TP53:NM_001126117:exon1:c.G128A:p.R43H,TP53:NM_001276697:exon1:c.G47A:p.R16H,TP53:NM_001276698:exon1:c.G47A:p.R16H,TP53:NM_001276699:exon1:c.G47A:p.R16H,TP53:NM_001126118:exon4:c.G407A:p.R136H,TP53:NM_000546:exon5:c.G524A:p.R175H,TP53:NM_001126112:exon5:c.G524A:p.R175H,TP53:NM_001126113:exon5:c.G524A:p.R175H,TP53:NM_001126114:exon5:c.G524A:p.R175H,TP53:NM_001276695:exon5:c.G407A:p.R136H,TP53:NM_001276696:exon5:c.G407A:p.R136H,TP53:NM_001276760:exon5:c.G407A:p.R136H,TP53:NM_001276761:exon5:c.G407A:p.R136H	17p13.1	.	rs28934578	0.0	D	1.0	D	0.999	D	0.000	D	1	A	3.345	M	-7.55	D	-4.6	D	0.975	4.992	25.1	0.999	0.989	D	0.920	D	0.996	D	0.722	0	5.41	0.033	0.852	0.977	0.868	17.077	Deleterious
1553	17	7675088	G	A	Pathogenic	TP53	.	.	.	.	.	.	.	.	.	.	17	7675088	7675088	G	A	exonic	TP53	.	nonsynonymous SNV	TP53:NM_001126115:exon1:c.G128T:p.R43L,TP53:NM_001126116:exon1:c.G128T:p.R43L,TP53:NM_001126117:exon1:c.G128T:p.R43L,TP53:NM_001276697:exon1:c.G47T:p.R16L,TP53:NM_001276698:exon1:c.G47T:p.R16L,TP53:NM_001276699:exon1:c.G47T:p.R16L,TP53:NM_001126118:exon4:c.G407T:p.R136L,TP53:NM_000546:exon5:c.G524T:p.R175L,TP53:NM_001126112:exon5:c.G524T:p.R175L,TP53:NM_001126113:exon5:c.G524T:p.R175L,TP53:NM_001126114:exon5:c.G524T:p.R175L,TP53:NM_001276695:exon5:c.G407T:p.R136L,TP53:NM_001276696:exon5:c.G407T:p.R136L,TP53:NM_001276760:exon5:c.G407T:p.R136L,TP53:NM_001276761:exon5:c.G407T:p.R136L	17p13.1	.	rs28934578	0.0	D	1.0	D	1.0	D	0.000	D	1	D	3.345	M	-7.54	D	-6.44	D	0.994	8.108	35	0.999	0.992	D	0.920	D	0.996	D	0.722	0	5.41	0.033	0.852	0.977	0.868	17.077	Deleterious
1554	17	7675095	G	A	Pathogenic/Likely pathogenic	TP53	.	.	.	.	.	.	.	.	.	.	17	7675095	7675095	G	A	exonic	TP53	.	nonsynonymous SNV	TP53:NM_001126115:exon1:c.G121T:p.V41L,TP53:NM_001126116:exon1:c.G121T:p.V41L,TP53:NM_001126117:exon1:c.G121T:p.V41L,TP53:NM_001276697:exon1:c.G40T:p.V14L,TP53:NM_001276698:exon1:c.G40T:p.V14L,TP53:NM_001276699:exon1:c.G40T:p.V14L,TP53:NM_001126118:exon4:c.G400T:p.V134L,TP53:NM_000546:exon5:c.G517T:p.V173L,TP53:NM_001126112:exon5:c.G517T:p.V173L,TP53:NM_001126113:exon5:c.G517T:p.V173L,TP53:NM_001126114:exon5:c.G517T:p.V173L,TP53:NM_001276695:exon5:c.G400T:p.V134L,TP53:NM_001276696:exon5:c.G400T:p.V134L,TP53:NM_001276760:exon5:c.G400T:p.V134L,TP53:NM_001276761:exon5:c.G400T:p.V134L	17p13.1	.	.	0.0	D	1.0	D	0.999	D	0.000	D	1	D	3.31	M	-7.13	D	-2.76	D	0.846	6.289	29.1	0.997	0.995	D	0.960	D	0.994	D	0.722	0	5.59	0.871	0.935	0.935	0.188	17.478	Deleterious
1555	17	7675119	C	T	Pathogenic	TP53	.	.	.	.	.	.	.	.	.	.	17	7675119	7675119	C	T	exonic	TP53	.	nonsynonymous SNV	TP53:NM_001126115:exon1:c.C97A:p.Q33K,TP53:NM_001126116:exon1:c.C97A:p.Q33K,TP53:NM_001126117:exon1:c.C97A:p.Q33K,TP53:NM_001276697:exon1:c.C16A:p.Q6K,TP53:NM_001276698:exon1:c.C16A:p.Q6K,TP53:NM_001276699:exon1:c.C16A:p.Q6K,TP53:NM_001126118:exon4:c.C376A:p.Q126K,TP53:NM_000546:exon5:c.C493A:p.Q165K,TP53:NM_001126112:exon5:c.C493A:p.Q165K,TP53:NM_001126113:exon5:c.C493A:p.Q165K,TP53:NM_001126114:exon5:c.C493A:p.Q165K,TP53:NM_001276695:exon5:c.C376A:p.Q126K,TP53:NM_001276696:exon5:c.C376A:p.Q126K,TP53:NM_001276760:exon5:c.C376A:p.Q126K,TP53:NM_001276761:exon5:c.C376A:p.Q126K	17p13.1	.	.	1.0	T	0.0	B	0.001	B	0.000	N	0.926	D	-2.085	N	-6.24	D	3.35	N	0.397	-0.055	2.091	0.216	0.532	D	0.559	D	0.784	D	0.722	0	4.52	0.038	-0.087	0.992	0.139	10.836	Deleterious
1556	17	7675139	G	A	Pathogenic/Likely pathogenic	TP53	.	.	.	.	.	.	.	.	.	.	17	7675139	7675139	G	A	exonic	TP53	.	nonsynonymous SNV	TP53:NM_001126115:exon1:c.G77T:p.R26L,TP53:NM_001126116:exon1:c.G77T:p.R26L,TP53:NM_001126117:exon1:c.G77T:p.R26L,TP53:NM_001126118:exon4:c.G356T:p.R119L,TP53:NM_000546:exon5:c.G473T:p.R158L,TP53:NM_001126112:exon5:c.G473T:p.R158L,TP53:NM_001126113:exon5:c.G473T:p.R158L,TP53:NM_001126114:exon5:c.G473T:p.R158L,TP53:NM_001276695:exon5:c.G356T:p.R119L,TP53:NM_001276696:exon5:c.G356T:p.R119L,TP53:NM_001276760:exon5:c.G356T:p.R119L,TP53:NM_001276761:exon5:c.G356T:p.R119L	17p13.1	.	.	0.0	D	1.0	D	1.0	D	0.000	D	1	D	3.265	M	-7.3	D	-6.36	D	0.956	6.064	28.1	0.997	0.993	D	0.937	D	0.994	D	0.722	0	4.63	0.871	0.040	0.722	0.015	12.649	Deleterious
1557	17	7675157	C	T	Pathogenic	TP53	.	.	.	.	.	.	.	.	.	.	17	7675157	7675157	C	T	exonic	TP53	.	nonsynonymous SNV	TP53:NM_001126115:exon1:c.C59A:p.P20Q,TP53:NM_001126116:exon1:c.C59A:p.P20Q,TP53:NM_001126117:exon1:c.C59A:p.P20Q,TP53:NM_001126118:exon4:c.C338A:p.P113Q,TP53:NM_000546:exon5:c.C455A:p.P152Q,TP53:NM_001126112:exon5:c.C455A:p.P152Q,TP53:NM_001126113:exon5:c.C455A:p.P152Q,TP53:NM_001126114:exon5:c.C455A:p.P152Q,TP53:NM_001276695:exon5:c.C338A:p.P113Q,TP53:NM_001276696:exon5:c.C338A:p.P113Q,TP53:NM_001276760:exon5:c.C338A:p.P113Q,TP53:NM_001276761:exon5:c.C338A:p.P113Q	17p13.1	.	.	0.0	D	1.0	D	0.999	D	0.000	D	1	D	2.69	M	-7.51	D	-7.18	D	0.77	5.745	26.9	0.990	0.994	D	0.932	D	0.995	D	0.722	0	5.59	0.917	1.048	0.019	0.034	17.478	Deleterious
1558	17	7675161	C	T	Pathogenic/Likely pathogenic	TP53	.	.	.	.	.	.	.	.	.	.	17	7675161	7675161	C	T	exonic	TP53	.	nonsynonymous SNV	TP53:NM_001126115:exon1:c.C55A:p.P19T,TP53:NM_001126116:exon1:c.C55A:p.P19T,TP53:NM_001126117:exon1:c.C55A:p.P19T,TP53:NM_001126118:exon4:c.C334A:p.P112T,TP53:NM_000546:exon5:c.C451A:p.P151T,TP53:NM_001126112:exon5:c.C451A:p.P151T,TP53:NM_001126113:exon5:c.C451A:p.P151T,TP53:NM_001126114:exon5:c.C451A:p.P151T,TP53:NM_001276695:exon5:c.C334A:p.P112T,TP53:NM_001276696:exon5:c.C334A:p.P112T,TP53:NM_001276760:exon5:c.C334A:p.P112T,TP53:NM_001276761:exon5:c.C334A:p.P112T	17p13.1	.	rs28934874	0.002	D	1.0	D	1.0	D	0.000	D	1.000	D	2.855	M	-7.49	D	-6.76	D	0.907	4.957	25.0	0.997	0.992	D	0.931	D	0.995	D	0.722	0	5.59	0.917	1.048	0.044	0.036	17.478	Deleterious
1559	17	7676096	G	A	Pathogenic	TP53	.	.	.	.	.	.	.	.	.	.	17	7676096	7676096	G	A	exonic	TP53	.	nonsynonymous SNV	TP53:NM_001126118:exon3:c.G156T:p.W52C,TP53:NM_000546:exon4:c.G273T:p.W91C,TP53:NM_001126112:exon4:c.G273T:p.W91C,TP53:NM_001126113:exon4:c.G273T:p.W91C,TP53:NM_001126114:exon4:c.G273T:p.W91C,TP53:NM_001276695:exon4:c.G156T:p.W52C,TP53:NM_001276696:exon4:c.G156T:p.W52C,TP53:NM_001276760:exon4:c.G156T:p.W52C,TP53:NM_001276761:exon4:c.G156T:p.W52C	17p13.1	.	.	0.075	T	1.0	D	0.987	D	0.058	N	1.000	D	0.805	L	-2.11	D	-0.1	N	0.647	3.745	23.3	0.993	0.890	D	0.973	D	0.949	D	0.722	0	4.62	0.598	0.935	0.501	0.954	8.848	Deleterious
1560	17	8075687	A	G	Pathogenic	ALOX12B	.	.	.	.	.	.	.	.	.	.	17	8075687	8075687	A	G	exonic	ALOX12B	.	nonsynonymous SNV	ALOX12B:NM_001139:exon12:c.A1562C:p.Y521S	17p13.1	.	.	0.025	D	1.0	D	1.0	D	0.000	D	1.000	D	3.715	H	-4.11	D	-8.5	D	0.931	6.142	28.4	0.992	0.984	D	1.088	D	0.951	D	0.447	0	4.44	0.991	1.061	0.953	0.954	12.660	Deleterious
1561	17	15239545	T	C	Pathogenic/Likely pathogenic	PMP22	.	.	.	.	.	.	.	.	.	.	17	15239545	15239545	T	C	exonic	PMP22	.	nonsynonymous SNV	PMP22:NM_153322:exon3:c.T245G:p.L82R,PMP22:NM_000304:exon4:c.T245G:p.L82R,PMP22:NM_001281455:exon4:c.T245G:p.L82R,PMP22:NM_001281456:exon4:c.T245G:p.L82R,PMP22:NM_153321:exon4:c.T245G:p.L82R	17p12	.	.	0.008	D	0.996	D	0.897	P	0.004	N	1	D	2.28	M	-2.82	D	-4.13	D	0.853	5.435	26.1	0.943	0.971	D	0.726	D	0.805	D	0.707	0	4.52	1.062	0.203	1.000	0.997	12.792	Deleterious
1562	17	16316686	T	C	Pathogenic	PIGL	.	.	.	.	.	.	.	.	.	.	17	16316686	16316686	T	C	exonic	PIGL	.	nonsynonymous SNV	PIGL:NM_004278:exon5:c.T500C:p.L167P	17p11.2	0.0006	rs145303331	0.001	D	1.0	D	0.997	D	0.000	D	1	D	3.125	M	-1.13	T	-5.64	D	0.99	5.328	25.8	0.999	0.966	D	0.402	D	0.662	D	0.732	0	4.86	0.991	1.061	0.850	0.992	12.716	Deleterious
1563	17	17214990	G	A	Pathogenic	FLCN	.	.	.	.	.	.	.	.	.	.	17	17214990	17214990	G	A	exonic	FLCN	.	nonsynonymous SNV	FLCN:NM_144997:exon13:c.G1533T:p.W511C	17p11.2	.	.	0.0	D	1.0	D	0.996	D	0.000	D	1	D	0.975	L	-4.62	D	-9.8	D	0.971	7.408	34	0.992	0.990	D	1.074	D	0.921	D	0.707	0	4.79	0.871	0.935	1.000	1.000	14.745	Deleterious
1564	17	17215092	A	G	Pathogenic/Likely pathogenic	FLCN	.	.	.	.	.	.	.	.	.	.	17	17215092	17215092	A	G	splicing	FLCN	NM_144997:exon13:c.1433-2T>C	.	.	17p11.2	.	.	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	3.604	23.2	0.977	0.962	D	.	.	.	.	0.099	0	5.21	0.991	1.061	0.707	0.060	15.374	Deleterious (FATHMM)
1565	17	17215184	G	A	Pathogenic/Likely pathogenic	FLCN	.	.	.	.	.	.	.	.	.	.	17	17215184	17215184	G	A	splicing	FLCN	NM_144997:exon12:c.1432+1C>T	.	.	17p11.2	.	.	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	5.897	27.5	0.996	0.984	D	.	.	.	.	0.257	0	5.03	0.871	0.852	0.911	0.988	18.717	Deleterious (FATHMM)
1566	17	17215188	C	T	Pathogenic	FLCN	.	.	.	.	.	.	.	.	.	.	17	17215188	17215188	C	T	exonic	FLCN	.	synonymous SNV	FLCN:NM_144997:exon12:c.C1429A:p.R477R	17p11.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
1567	17	17215228	C	G	Pathogenic	FLCN	.	.	.	.	.	.	.	.	.	.	17	17215228	17215228	C	G	exonic	FLCN	.	synonymous SNV	FLCN:NM_144997:exon12:c.C1389C:p.Y463Y	17p11.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
1568	17	17217128	C	T	Pathogenic	FLCN	.	.	.	.	.	.	.	.	.	.	17	17217128	17217128	C	T	exonic	FLCN	.	nonsynonymous SNV	FLCN:NM_144997:exon10:c.C1117A:p.Q373K	17p11.2	.	rs398124524	0.0	D	1.0	D	0.996	D	0.000	D	1	D	2.19	M	-4.17	D	-2.81	D	0.944	6.531	31	0.997	0.979	D	1.050	D	0.935	D	0.707	0	6.06	0.917	1.048	0.996	0.998	20.628	Deleterious
1569	17	17219206	T	G	Pathogenic	FLCN	.	.	.	.	.	.	.	.	.	.	17	17219206	17219206	T	G	exonic	FLCN	.	nonsynonymous SNV	FLCN:NM_144997:exon9:c.T875C:p.L292S	17p11.2	.	.	0.03	D	0.495	P	0.13	B	0.000	D	0.996	D	1.61	L	-3.13	D	-0.88	N	0.863	3.196	22.7	0.996	0.979	D	0.227	D	0.659	D	0.707	0	5.97	1.062	1.199	0.874	0.986	16.450	Deleterious
1570	17	17222500	G	T	Pathogenic	FLCN	.	.	.	.	.	.	.	.	.	.	17	17222500	17222500	G	T	splicing	FLCN	NM_144997:exon7:c.779+1C>A,NM_144606:exon7:c.779+1C>A	.	.	17p11.2	.	.	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	5.861	27.3	0.995	0.985	D	.	.	.	.	0.257	0	5.71	0.871	0.935	0.972	0.930	19.843	Deleterious (FATHMM)
1571	17	17224041	C	T	Pathogenic	FLCN	.	.	.	.	.	.	.	.	.	.	17	17224041	17224041	C	T	exonic	FLCN	.	nonsynonymous SNV	FLCN:NM_144606:exon6:c.C499A:p.Q167K,FLCN:NM_144997:exon6:c.C499A:p.Q167K	17p11.2	.	.	0.206	T	0.996	D	0.979	D	0.000	D	1	D	0.945	L	-2.33	D	-1.73	N	0.764	2.815	21.4	0.996	0.993	D	0.118	D	0.668	D	0.732	0	5.74	0.917	1.048	1.000	1.000	19.270	Deleterious
1572	17	17226226	C	T	Pathogenic	FLCN	.	.	.	.	.	.	.	.	.	.	17	17226226	17226226	C	T	exonic	FLCN	.	nonsynonymous SNV	FLCN:NM_144606:exon5:c.C346A:p.Q116K,FLCN:NM_144997:exon5:c.C346A:p.Q116K	17p11.2	.	rs398124536	0.085	T	0.989	D	0.89	P	0.000	D	1.000	D	0.83	L	-2.34	D	-1.39	N	0.597	3.079	22.5	0.996	0.991	D	0.241	D	0.649	D	0.707	0	5.84	0.917	1.045	0.989	0.999	19.116	Deleterious
1573	17	17226323	G	A	Pathogenic	FLCN	.	.	.	.	.	.	.	.	.	.	17	17226323	17226323	G	A	splicing	FLCN	NM_144997:exon5:c.250-1C>T,NM_144606:exon5:c.250-1C>T	.	.	17p11.2	.	.	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	5.103	25.3	0.995	0.989	D	.	.	.	.	0.295	0	4.66	0.871	0.932	0.848	0.934	13.521	Deleterious (FATHMM)
1574	17	17226324	A	G	Pathogenic	FLCN	.	.	.	.	.	.	.	.	.	.	17	17226324	17226324	A	G	splicing	FLCN	NM_144997:exon5:c.250-2T>C,NM_144606:exon5:c.250-2T>C	.	.	17p11.2	.	.	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	4.414	24.1	0.990	0.987	D	.	.	.	.	0.156	0	4.56	0.991	1.058	0.695	0.861	10.665	Deleterious (FATHMM)
1575	17	19663335	C	T	Pathogenic	ALDH3A2	.	.	.	.	.	.	.	.	.	.	17	19663335	19663335	C	T	exonic	ALDH3A2	.	nonsynonymous SNV	ALDH3A2:NM_000382:exon7:c.C943T:p.P315S,ALDH3A2:NM_001031806:exon7:c.C943T:p.P315S	17p11.2	.	rs72547571	0.0	D	1.0	D	0.998	D	0.000	D	1	A	3.985	H	-2.6	D	-7.82	D	0.944	6.603	31	0.935	0.954	D	1.050	D	0.892	D	0.722	0	5.12	0.824	0.919	0.972	0.984	17.577	Deleterious
1576	17	31095340	C	T	Pathogenic/Likely pathogenic	NF1	.	.	.	.	.	.	.	.	.	.	17	31095340	31095340	C	T	exonic	NF1	.	stopgain	NF1:NM_000267:exon1:c.C31T:p.Q11X,NF1:NM_001042492:exon1:c.C31T:p.Q11X,NF1:NM_001128147:exon1:c.C31T:p.Q11X	17q11.2	.	.	.	.	.	.	.	.	0.000	U	1	A	.	.	.	.	.	.	.	8.922	35	0.997	0.461	N	.	.	.	.	0.267	1	2.6	-0.089	0.724	0.995	1.000	10.920	Deleterious (DANN)
1577	17	31181460	C	T	Pathogenic	NF1	.	.	.	.	.	.	.	.	.	.	17	31181460	31181460	C	T	exonic	NF1	.	stopgain	NF1:NM_000267:exon6:c.C625T:p.Q209X,NF1:NM_001042492:exon6:c.C625T:p.Q209X,NF1:NM_001128147:exon6:c.C625T:p.Q209X	17q11.2	.	rs786203448	.	.	.	.	.	.	0.000	D	1	A	.	.	.	.	.	.	.	10.900	37	0.998	0.981	D	.	.	.	.	0.706	0	5.39	0.871	0.807	0.991	0.997	14.044	Deleterious (FATHMM)
1578	17	31206297	C	T	Pathogenic	NF1	.	.	.	.	.	.	.	.	.	.	17	31206297	31206297	C	T	exonic	NF1	.	stopgain	NF1:NM_000267:exon12:c.C1318T:p.R440X,NF1:NM_001042492:exon12:c.C1318T:p.R440X,NF1:NM_001128147:exon12:c.C1318T:p.R440X	17q11.2	.	rs778405030	.	.	.	.	.	.	0.000	D	1	A	.	.	.	.	.	.	.	11.328	37	0.997	0.979	D	.	.	.	.	0.732	0	5.2	0.871	0.044	0.999	0.999	17.001	Deleterious (FATHMM)
1579	17	31206360	C	T	Pathogenic	NF1	.	.	.	.	.	.	.	.	.	.	17	31206360	31206360	C	T	exonic	NF1	.	stopgain	NF1:NM_000267:exon12:c.C1381T:p.R461X,NF1:NM_001042492:exon12:c.C1381T:p.R461X,NF1:NM_001128147:exon12:c.C1381T:p.R461X	17q11.2	.	.	.	.	.	.	.	.	0.000	D	1	A	.	.	.	.	.	.	.	12.128	38	0.997	0.987	D	.	.	.	.	0.651	0	4.16	0.871	0.038	1.000	0.998	15.853	Deleterious (FATHMM)
1580	17	31225134	G	A	Pathogenic	NF1	.	.	.	.	.	.	.	.	.	.	17	31225134	31225134	G	A	exonic	NF1	.	nonsynonymous SNV	NF1:NM_000267:exon17:c.G1885A:p.G629R,NF1:NM_001042492:exon17:c.G1885A:p.G629R	17q11.2	.	rs199474738	0.071	T	1.0	D	0.996	D	0.000	D	0.999	D	0	N	3.41	T	-1.36	N	0.957	1.885	15.50	0.991	0.982	D	-0.940	T	0.032	T	0.706	0	5.26	0.917	1.048	0.998	0.829	15.853	Tolerated
1581	17	31227254	T	C	Pathogenic/Likely pathogenic, not provided	NF1	.	.	.	.	.	.	.	.	.	.	17	31227254	31227254	T	C	exonic	NF1	.	nonsynonymous SNV	NF1:NM_000267:exon19:c.T2288C:p.L763P,NF1:NM_001042492:exon19:c.T2288C:p.L763P	17q11.2	.	rs199474762	0.0	D	1.0	D	0.999	D	0.000	D	1	D	1.685	L	1.21	T	-5.12	D	0.998	6.440	29.8	0.999	0.988	D	-0.119	T	0.430	T	0.719	0	5.25	0.991	1.061	0.999	0.996	15.440	Tolerated
1582	17	31230384	T	G	Pathogenic/Likely pathogenic	NF1	.	.	.	.	.	.	.	.	.	.	17	31230384	31230384	T	G	splicing	NF1	NM_000267:exon23:c.3113+2T>G,NM_001042492:exon23:c.3113+2T>G	.	.	17q11.2	.	.	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	5.041	25.2	0.992	0.987	D	.	.	.	.	0.089	0	5.33	0.991	1.011	0.999	1.000	15.297	Deleterious (FATHMM)
1583	17	31235623	C	T	Pathogenic	NF1	.	.	.	.	.	.	.	.	.	.	17	31235623	31235623	C	T	exonic	NF1	.	stopgain	NF1:NM_000267:exon28:c.C3721T:p.R1241X,NF1:NM_001042492:exon28:c.C3721T:p.R1241X	17q11.2	.	rs137854562	.	.	.	.	.	.	0.000	D	1	A	.	.	.	.	.	.	.	13.300	41	0.998	0.942	D	.	.	.	.	0.615	0	4.8	0.871	0.935	0.999	1.000	16.124	Deleterious (FATHMM)
1584	17	31235728	C	T	Pathogenic	NF1	.	.	.	.	.	.	.	.	.	.	17	31235728	31235728	C	T	exonic	NF1	.	stopgain	NF1:NM_000267:exon28:c.C3826T:p.R1276X,NF1:NM_001042492:exon28:c.C3826T:p.R1276X	17q11.2	.	rs199474742	.	.	.	.	.	.	0.000	D	1	A	.	.	.	.	.	.	.	13.752	43	0.998	0.917	D	.	.	.	.	0.719	0	5.15	-0.058	0.935	0.989	0.999	14.734	Deleterious (FATHMM)
1585	17	31261733	C	T	Pathogenic	NF1	.	.	.	.	.	.	.	.	.	.	17	31261733	31261733	C	T	exonic	NF1	.	stopgain	NF1:NM_000267:exon34:c.C4537T:p.R1513X,NF1:NM_001042492:exon35:c.C4600T:p.R1534X	17q11.2	.	rs760703505	.	.	.	.	.	.	0.000	D	1	A	.	.	.	.	.	.	.	13.578	42	0.997	0.934	D	.	.	.	.	0.707	0	5.44	0.871	0.935	1.000	1.000	13.250	Deleterious (FATHMM)
1586	17	31338739	C	A	Pathogenic	NF1	.	.	.	.	.	.	.	.	.	.	17	31338739	31338739	C	A	exonic	NF1	.	stopgain	NF1:NM_000267:exon45:c.C6792A:p.Y2264X,NF1:NM_001042492:exon46:c.C6855A:p.Y2285X	17q11.2	.	rs772295894	.	.	.	.	.	.	0.000	D	1	A	.	.	.	.	.	.	.	14.147	44	0.996	0.976	D	.	.	.	.	0.732	0	4.94	0.871	0.935	1.000	1.000	9.921	Deleterious (FATHMM)
1587	17	31357308	C	T	Pathogenic/Likely pathogenic	NF1	.	.	.	.	.	.	.	.	.	.	17	31357308	31357308	C	T	exonic	NF1	.	stopgain	NF1:NM_000267:exon53:c.C7846T:p.R2616X,NF1:NM_001042492:exon54:c.C7909T:p.R2637X	17q11.2	.	rs786201367	.	.	.	.	.	.	0.000	D	1	A	.	.	.	.	.	.	.	13.528	42	0.996	0.913	D	.	.	.	.	0.732	0	3.93	0.871	0.015	0.991	0.998	14.430	Deleterious (FATHMM)
1588	17	35101347	C	T	Pathogenic, risk factor	RAD51D|RAD51L3-RFFL	.	.	.	.	.	.	.	.	.	.	17	35101347	35101347	C	T	exonic	RAD51D	.	synonymous SNV	RAD51D:NM_133629:exon6:c.C421A:p.R141R,RAD51D:NM_001142571:exon9:c.C817A:p.R273R,RAD51D:NM_002878:exon9:c.C757A:p.R253R	17q12	.	rs137886232	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
1589	17	35103298	C	T	Pathogenic	RAD51D|RAD51L3-RFFL	.	.	.	.	.	.	.	.	.	.	17	35103298	35103298	C	T	exonic	RAD51D	.	synonymous SNV	RAD51D:NM_133629:exon5:c.C358A:p.R120R,RAD51D:NM_001142571:exon8:c.C754A:p.R252R,RAD51D:NM_002878:exon8:c.C694A:p.R232R	17q12	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
1590	17	35106406	C	T	Pathogenic, risk factor	RAD51D|RAD51L3-RFFL	.	.	.	.	.	.	.	.	.	.	17	35106406	35106406	C	T	exonic	RAD51D	.	synonymous SNV	RAD51D:NM_133629:exon3:c.C220A:p.R74R,RAD51D:NM_001142571:exon6:c.C616A:p.R206R,RAD51D:NM_002878:exon6:c.C556A:p.R186R	17q12	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
1591	17	42316899	C	T	Pathogenic	STAT3	.	.	.	.	.	.	.	.	.	.	17	42316899	42316899	C	T	exonic	STAT3	.	nonsynonymous SNV	STAT3:NM_003150:exon23:c.C2144A:p.T715K,STAT3:NM_139276:exon23:c.C2147A:p.T716K	17q21.2	.	.	0.277	T	0.872	P	0.357	B	0.000	D	1	D	0.455	N	-4.24	D	-0.49	N	0.71	1.913	15.67	0.973	0.952	D	0.308	D	0.720	D	0.722	0	3.13	0.917	-0.222	1.000	0.998	11.248	Deleterious
1592	17	42329448	G	A	Pathogenic/Likely pathogenic	STAT3	.	.	.	.	.	.	.	.	.	.	17	42329448	42329448	G	A	exonic	STAT3	.	stopgain	STAT3:NM_003150:exon14:c.G1243T:p.E415X,STAT3:NM_139276:exon14:c.G1243T:p.E415X,STAT3:NM_213662:exon14:c.G1243T:p.E415X	17q21.2	.	.	.	.	.	.	.	.	0.000	D	1	A	.	.	.	.	.	.	.	14.232	45	0.996	0.993	D	.	.	.	.	0.731	0	5.49	0.871	0.935	1.000	1.000	19.576	Deleterious (FATHMM)
1593	17	42541074	C	T	Pathogenic	NAGLU	.	.	.	.	.	.	.	.	.	.	17	42541074	42541074	C	T	exonic	NAGLU	.	stopgain	NAGLU:NM_000263:exon5:c.C889T:p.R297X	17q21.2	7.7e-05	rs104894592	.	.	.	.	.	.	0.987	N	1	A	.	.	.	.	.	.	.	9.769	36	0.997	0.476	N	.	.	.	.	0.722	0	1.67	-0.058	-0.381	0.994	0.944	6.356	Deleterious (DANN)
1594	17	42903947	C	T	Pathogenic	G6PC	.	.	.	.	.	.	.	.	.	.	17	42903947	42903947	C	T	exonic	G6PC	.	nonsynonymous SNV	G6PC:NM_000151:exon2:c.C247T:p.R83C,G6PC:NM_001270397:exon2:c.C247T:p.R83C	17q21.31	0.0005	rs1801175	0.0	D	1.0	D	0.999	D	0.000	D	1	A	4.245	H	-2.19	D	-6.9	D	0.989	7.756	35	0.999	0.861	D	0.998	D	0.861	D	0.497	0	4.93	0.871	0.892	0.996	0.979	11.236	Deleterious
1595	17	42911235	C	T	Pathogenic/Likely pathogenic	G6PC	.	.	.	.	.	.	.	.	.	.	17	42911235	42911235	C	T	exonic	G6PC	.	nonsynonymous SNV	G6PC:NM_000151:exon5:c.C883T:p.R295C	17q21.31	.	rs104894563	0.0	D	1.0	D	0.997	D	0.000	D	1	A	2.44	M	-1.11	T	-3.43	D	0.811	7.657	35	0.999	0.906	D	0.392	D	0.647	D	0.447	0	5.07	0.871	0.843	0.801	0.969	18.643	Deleterious
1596	17	42911321	C	A	Pathogenic/Likely pathogenic	G6PC	.	.	.	.	.	.	.	.	.	.	17	42911321	42911321	C	A	exonic	G6PC	.	stopgain	G6PC:NM_000151:exon5:c.C969A:p.Y323X	17q21.31	.	rs780226142	.	.	.	.	.	.	0.000	D	1	D	.	.	.	.	.	.	.	6.358	29.4	0.984	0.260	N	.	.	.	.	0.549	0	-5.67	0.871	0.011	0.967	0.672	15.069	Deleterious (DANN)
1597	17	42911391	C	T	Pathogenic	G6PC	.	.	.	.	.	.	.	.	.	.	17	42911391	42911391	C	T	exonic	G6PC	.	stopgain	G6PC:NM_000151:exon5:c.C1039T:p.Q347X	17q21.31	0.0007	rs80356487	.	.	.	.	.	.	0.433	N	1.000	A	.	.	.	.	.	.	.	7.792	35	0.906	0.206	N	.	.	.	.	0.447	0	-1.8	0.871	0.011	0.911	0.824	10.427
1598	17	43047641	T	C	Pathogenic/Likely pathogenic	BRCA1	.	.	.	.	.	.	.	.	.	.	17	43047641	43047641	T	C	splicing	BRCA1	NM_007297:exon21:c.5326+2A>G,NM_007294:exon22:c.5467+2A>G,NM_007298:exon21:c.2155+2A>G,NM_007299:exon21:c.2081+2A>G,NM_007300:exon23:c.5530+2A>G	.	.	17q21.31	.	rs80358009	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	4.170	23.8	0.987	0.928	D	.	.	.	.	0.295	0	4.98	1.062	1.083	0.566	0.189	10.983	Deleterious (FATHMM)
1599	17	43047642	G	A	Pathogenic/Likely pathogenic	BRCA1	.	.	.	.	.	.	.	.	.	.	17	43047642	43047642	G	A	splicing	BRCA1	NM_007297:exon21:c.5326+1C>T,NM_007294:exon22:c.5467+1C>T,NM_007298:exon21:c.2155+1C>T,NM_007299:exon21:c.2081+1C>T,NM_007300:exon23:c.5530+1C>T	.	.	17q21.31	.	.	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	5.021	25.2	0.991	0.908	D	.	.	.	.	0.295	0	4.98	0.871	0.848	0.540	0.185	13.620	Deleterious (FATHMM)
1600	17	43051118	G	T	Pathogenic	BRCA1	.	.	.	.	.	.	.	.	.	.	17	43051118	43051118	G	T	splicing	BRCA1	NM_007297:exon19:c.5137-1C>A,NM_007294:exon20:c.5278-1C>A,NM_007298:exon19:c.1966-1C>A,NM_007299:exon20:c.1966-1C>A,NM_007300:exon21:c.5341-1C>A	.	.	17q21.31	.	rs80358099	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	5.343	25.9	0.992	0.892	D	.	.	.	.	0.295	0	5.06	0.871	0.935	0.990	0.941	14.128	Deleterious (FATHMM)
1601	17	43051118	G	C	Pathogenic	BRCA1	.	.	.	.	.	.	.	.	.	.	17	43051118	43051118	G	C	splicing	BRCA1	NM_007297:exon19:c.5137-1C>G,NM_007294:exon20:c.5278-1C>G,NM_007298:exon19:c.1966-1C>G,NM_007299:exon20:c.1966-1C>G,NM_007300:exon21:c.5341-1C>G	.	.	17q21.31	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.
1602	17	43057137	A	G	Pathogenic/Likely pathogenic, not provided	BRCA1	.	.	.	.	.	.	.	.	.	.	17	43057137	43057137	A	G	splicing	BRCA1	NM_007297:exon18:c.5053-2T>C,NM_007294:exon19:c.5194-2T>C,NM_007298:exon18:c.1882-2T>C,NM_007299:exon19:c.1882-2T>C,NM_007300:exon20:c.5257-2T>C	.	.	17q21.31	.	rs80358069	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	4.784	24.7	0.988	0.943	D	.	.	.	.	0.106	0	5.07	0.991	1.055	0.970	0.982	11.15	Deleterious (FATHMM)
1603	17	43063332	G	C	Pathogenic	BRCA1	.	.	.	.	.	.	.	.	.	.	17	43063332	43063332	G	C	splicing	BRCA1	NM_007297:exon17:c.5052+1C>G,NM_007294:exon18:c.5193+1C>G,NM_007298:exon17:c.1881+1C>G,NM_007299:exon18:c.1881+1C>G,NM_007300:exon19:c.5256+1C>G	.	.	17q21.31	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.
1604	17	43063375	A	G	Pathogenic/Likely pathogenic	BRCA1	.	.	.	.	.	.	.	.	.	.	17	43063375	43063375	A	G	splicing	BRCA1	NM_007297:exon17:c.5012-2T>C,NM_007294:exon18:c.5153-2T>C,NM_007298:exon17:c.1841-2T>C,NM_007299:exon18:c.1841-2T>C,NM_007300:exon19:c.5216-2T>C	.	.	17q21.31	.	.	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	4.885	24.9	0.987	0.945	D	.	.	.	.	0.106	0	5.46	0.991	0.913	0.698	0.989	12.213	Deleterious (FATHMM)
1605	17	43063873	G	A	Pathogenic	BRCA1	.	.	.	.	.	.	.	.	.	.	17	43063873	43063873	G	A	splicing	BRCA1	NM_007297:exon16:c.5011+1C>T,NM_007294:exon17:c.5152+1C>T,NM_007298:exon16:c.1840+1C>T,NM_007299:exon17:c.1840+1C>T,NM_007300:exon18:c.5215+1C>T	.	.	17q21.31	.	rs80358094	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	5.682	26.8	0.993	0.987	D	.	.	.	.	0.295	0	6.04	0.871	0.876	0.967	0.996	16.079	Deleterious (FATHMM)
1606	17	43063873	G	C	Pathogenic	BRCA1	.	.	.	.	.	.	.	.	.	.	17	43063873	43063873	G	C	splicing	BRCA1	NM_007297:exon16:c.5011+1C>G,NM_007294:exon17:c.5152+1C>G,NM_007298:exon16:c.1840+1C>G,NM_007299:exon17:c.1840+1C>G,NM_007300:exon18:c.5215+1C>G	.	.	17q21.31	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.
1607	17	43063953	A	G	Pathogenic	BRCA1	.	.	.	.	.	.	.	.	.	.	17	43063953	43063953	A	G	splicing	BRCA1	NM_007297:exon16:c.4934-2T>C,NM_007294:exon17:c.5075-2T>C,NM_007298:exon16:c.1763-2T>C,NM_007299:exon17:c.1763-2T>C,NM_007300:exon18:c.5138-2T>C	.	.	17q21.31	.	rs80358066	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	4.800	24.8	0.989	0.944	D	.	.	.	.	0.162	0	5.83	0.991	0.993	0.972	1.000	12.594	Deleterious (FATHMM)
1608	17	43067608	G	C	Pathogenic/Likely pathogenic, not provided	BRCA1	.	.	.	.	.	.	.	.	.	.	17	43067608	43067608	G	C	exonic	BRCA1	.	synonymous SNV	BRCA1:NM_007297:exon15:c.G4933G:p.D1645D,BRCA1:NM_007298:exon15:c.G1762G:p.D588D,BRCA1:NM_007294:exon16:c.G5074G:p.D1692D,BRCA1:NM_007299:exon16:c.G1762G:p.D588D,BRCA1:NM_007300:exon17:c.G5137G:p.D1713D	17q21.31	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
1609	17	43067608	G	A	Pathogenic/Likely pathogenic, not provided	BRCA1	.	.	.	.	.	.	.	.	.	.	17	43067608	43067608	G	A	exonic	BRCA1	.	nonsynonymous SNV	BRCA1:NM_007297:exon15:c.G4933T:p.D1645Y,BRCA1:NM_007298:exon15:c.G1762T:p.D588Y,BRCA1:NM_007294:exon16:c.G5074T:p.D1692Y,BRCA1:NM_007299:exon16:c.G1762T:p.D588Y,BRCA1:NM_007300:exon17:c.G5137T:p.D1713Y	17q21.31	.	rs80187739	0.001	D	1.0	D	1.0	D	0.000	D	1	D	2.775	M	-1.25	T	-1.24	N	0.947	5.624	26.6	0.995	0.935	D	0.428	D	0.653	D	0.706	0	5.24	0.871	0.770	0.994	0.984	14.674	Deleterious
1610	17	43067697	A	G	Pathogenic	BRCA1	.	.	.	.	.	.	.	.	.	.	17	43067697	43067697	A	G	splicing	BRCA1	NM_007297:exon15:c.4846-2T>C,NM_007294:exon16:c.4987-2T>C,NM_007298:exon15:c.1675-2T>C,NM_007299:exon16:c.1675-2T>C,NM_007300:exon17:c.5050-2T>C	.	.	17q21.31	.	.	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	4.003	23.6	0.986	0.937	D	.	.	.	.	0.106	0	5.24	0.991	0.871	0.988	0.571	11.812	Deleterious (FATHMM)
1611	17	43070922	T	G	Pathogenic/Likely pathogenic, not provided	BRCA1	.	.	.	.	.	.	.	.	.	.	17	43070922	43070922	T	G	intronic	BRCA1	.	.	.	17q21.31	.	rs80358086	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	probably Tolerated (Intron)
1612	17	43070922	T	C	Pathogenic/Likely pathogenic, not provided	BRCA1	.	.	.	.	.	.	.	.	.	.	17	43070922	43070922	T	C	intronic	BRCA1	.	.	.	17q21.31	.	rs80358086	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	probably Tolerated (Intron)
1613	17	43070924	A	T	Pathogenic/Likely pathogenic, not provided	BRCA1	.	.	.	.	.	.	.	.	.	.	17	43070924	43070924	A	T	intronic	BRCA1	.	.	.	17q21.31	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	probably Tolerated (Intron)
1614	17	43071239	G	A	Pathogenic/Likely pathogenic	BRCA1	.	.	.	.	.	.	.	.	.	.	17	43071239	43071239	G	A	splicing	BRCA1	NM_007297:exon14:c.4535-1C>T,NM_007294:exon15:c.4676-1C>T,NM_007298:exon14:c.1364-1C>T,NM_007299:exon15:c.1364-1C>T,NM_007300:exon16:c.4739-1C>T	.	.	17q21.31	.	.	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	4.003	23.6	0.969	0.901	D	.	.	.	.	0.295	0	4.78	0.871	0.935	0.680	0.452	13.507	Deleterious (FATHMM)
1615	17	43074331	G	C	Pathogenic/Likely pathogenic, not provided	BRCA1	.	.	.	.	.	.	.	.	.	.	17	43074331	43074331	G	C	exonic	BRCA1	.	synonymous SNV	BRCA1:NM_007297:exon13:c.G4534G:p.E1512E,BRCA1:NM_007298:exon13:c.G1363G:p.E455E,BRCA1:NM_007294:exon14:c.G4675G:p.E1559E,BRCA1:NM_007299:exon14:c.G1363G:p.E455E,BRCA1:NM_007300:exon15:c.G4738G:p.E1580E	17q21.31	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
1616	17	43074331	G	A	Pathogenic	BRCA1	.	.	.	.	.	.	.	.	.	.	17	43074331	43074331	G	A	exonic	BRCA1	.	stopgain	BRCA1:NM_007297:exon13:c.G4534T:p.E1512X,BRCA1:NM_007298:exon13:c.G1363T:p.E455X,BRCA1:NM_007294:exon14:c.G4675T:p.E1559X,BRCA1:NM_007299:exon14:c.G1363T:p.E455X,BRCA1:NM_007300:exon15:c.G4738T:p.E1580X	17q21.31	.	.	.	.	.	.	.	.	0.001	N	1	A	.	.	.	.	.	.	.	15.046	49	0.997	0.968	D	.	.	.	.	0.732	0	5.54	0.871	0.928	0.416	0.993	14.857	Deleterious (FATHMM)
1617	17	43074522	G	T	Pathogenic	BRCA1	.	.	.	.	.	.	.	.	.	.	17	43074522	43074522	G	T	splicing	BRCA1	NM_007297:exon13:c.4344-1C>A,NM_007294:exon14:c.4485-1C>A,NM_007298:exon13:c.1173-1C>A,NM_007299:exon14:c.1173-1C>A,NM_007300:exon15:c.4548-1C>A	.	.	17q21.31	.	rs80358189	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	2.505	19.50	0.924	0.676	D	.	.	.	.	0.295	0	4.19	0.871	0.928	0.720	0.073	9.434	Deleterious (FATHMM)
1618	17	43074522	G	A	Pathogenic	BRCA1	.	.	.	.	.	.	.	.	.	.	17	43074522	43074522	G	A	splicing	BRCA1	NM_007297:exon13:c.4344-1C>T,NM_007294:exon14:c.4485-1C>T,NM_007298:exon13:c.1173-1C>T,NM_007299:exon14:c.1173-1C>T,NM_007300:exon15:c.4548-1C>T	.	.	17q21.31	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	2.734	21.0	0.931	0.733	D	.	.	.	.	0.295	0	4.19	0.871	0.928	0.720	0.073	9.434	Deleterious (FATHMM)
1619	17	43076488	G	C	Pathogenic	BRCA1	.	.	.	.	.	.	.	.	.	.	17	43076488	43076488	G	C	exonic	BRCA1	.	synonymous SNV	BRCA1:NM_007297:exon12:c.G4343G:p.R1448R,BRCA1:NM_007298:exon12:c.G1172G:p.R391R,BRCA1:NM_007294:exon13:c.G4484G:p.R1495R,BRCA1:NM_007299:exon13:c.G1172G:p.R391R,BRCA1:NM_007300:exon14:c.G4547G:p.R1516R	17q21.31	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
1620	17	43076488	G	T	Pathogenic	BRCA1	.	.	.	.	.	.	.	.	.	.	17	43076488	43076488	G	T	exonic	BRCA1	.	nonsynonymous SNV	BRCA1:NM_007297:exon12:c.G4343A:p.R1448K,BRCA1:NM_007298:exon12:c.G1172A:p.R391K,BRCA1:NM_007294:exon13:c.G4484A:p.R1495K,BRCA1:NM_007299:exon13:c.G1172A:p.R391K,BRCA1:NM_007300:exon14:c.G4547A:p.R1516K	17q21.31	.	rs80357389	0.192	T	0.932	P	0.815	P	0.122	N	1	D	1.1	L	-1.91	D	-0.38	N	0.647	4.045	23.7	0.988	0.859	D	0.452	D	0.709	D	0.706	0	4.97	0.871	0.935	0.124	0.639	13.587	Deleterious
1621	17	43082403	G	T	Pathogenic	BRCA1	.	.	.	.	.	.	.	.	.	.	17	43082403	43082403	G	T	splicing	BRCA1	NM_007297:exon11:c.4216+1C>A,NM_007294:exon12:c.4357+1C>A,NM_007298:exon11:c.1048+1C>A,NM_007299:exon12:c.1048+1C>A,NM_007300:exon12:c.4357+1C>A	.	.	17q21.31	.	rs80358027	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	5.350	25.9	0.990	0.954	D	.	.	.	.	0.156	0	5.26	0.871	0.935	0.106	0.165	15.725	Deleterious (FATHMM)
1622	17	43090944	G	A	Pathogenic	BRCA1	.	.	.	.	.	.	.	.	.	.	17	43090944	43090944	G	A	exonic	BRCA1	.	nonsynonymous SNV	BRCA1:NM_007297:exon10:c.G4044T:p.Q1348H,BRCA1:NM_007298:exon10:c.G876T:p.Q292H,BRCA1:NM_007294:exon11:c.G4185T:p.Q1395H,BRCA1:NM_007299:exon11:c.G876T:p.Q292H,BRCA1:NM_007300:exon11:c.G4185T:p.Q1395H	17q21.31	.	.	0.001	D	1.0	D	0.999	D	0.000	D	1	D	1.1	L	-2.21	D	-0.91	N	0.62	6.938	33	0.997	0.969	D	-0.835	T	0.213	T	0.707	0	4.66	0.871	0.852	0.989	0.998	16.277	Tolerated
1623	17	43091434	G	A	Pathogenic/Likely pathogenic	BRCA1	.	.	.	.	.	.	.	.	.	.	17	43091434	43091434	G	A	splicing	BRCA1	NM_007297:exon9:c.3955+1C>T,NM_007294:exon10:c.4096+1C>T,NM_007300:exon10:c.4096+1C>T	.	.	17q21.31	.	.	0.24	T	1.0	D	0.999	D	.	.	1	D	.	.	-2.48	D	-1.17	N	.	5.633	26.6	0.992	0.965	D	.	.	.	.	0.156	0	5.31	0.871	0.852	0.827	0.974	16.293	Deleterious (FATHMM)
1624	17	43094861	G	T	Pathogenic/Likely pathogenic	BRCA1	.	.	.	.	.	.	.	.	.	.	17	43094861	43094861	G	T	splicing	BRCA1	NM_007297:exon9:c.530-1C>A,NM_007294:exon10:c.671-1C>A,NM_007298:exon9:c.671-1C>A,NM_007299:exon10:c.671-1C>A,NM_007300:exon10:c.671-1C>A	.	.	17q21.31	.	rs80358020	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	3.356	22.9	0.985	0.969	D	.	.	.	.	0.295	0	4.86	0.871	0.807	1.000	0.998	16.715	Deleterious (FATHMM)
1625	17	43095845	G	T	Pathogenic/Likely pathogenic	BRCA1	.	.	.	.	.	.	.	.	.	.	17	43095845	43095845	G	T	splicing	BRCA1	NM_007297:exon8:c.529+1C>A,NM_007294:exon9:c.670+1C>A,NM_007298:exon8:c.670+1C>A,NM_007299:exon9:c.670+1C>A,NM_007300:exon9:c.670+1C>A	.	.	17q21.31	.	.	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	4.346	24.1	0.945	0.730	D	.	.	.	.	0.156	0	2.56	0.871	0.848	0.948	0.992	7.181	Deleterious (FATHMM)
1626	17	43099774	G	T	Pathogenic/Likely pathogenic, not provided	BRCA1	.	.	.	.	.	.	.	.	.	.	17	43099774	43099774	G	T	splicing	BRCA1	NM_007297:exon6:c.406+1C>A,NM_007294:exon7:c.547+1C>A,NM_007298:exon6:c.547+1C>A,NM_007299:exon7:c.547+1C>A,NM_007300:exon7:c.547+1C>A	.	.	17q21.31	.	rs80358030	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	4.500	24.3	0.985	0.866	D	.	.	.	.	0.156	0	5.16	0.871	0.892	0.559	0.898	14.328	Deleterious (FATHMM)
1627	17	43104264	C	G	Pathogenic/Likely pathogenic, not provided	BRCA1	.	.	.	.	.	.	.	.	.	.	17	43104264	43104264	C	G	intronic	BRCA1	.	.	.	17q21.31	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	probably Tolerated (Intron)
1628	17	43104867	G	A	Pathogenic/Likely pathogenic	BRCA1	.	.	.	.	.	.	.	.	.	.	17	43104867	43104867	G	A	splicing	BRCA1	NM_007297:exon4:c.160+1C>T,NM_007294:exon5:c.301+1C>T,NM_007298:exon4:c.301+1C>T,NM_007299:exon5:c.301+1C>T,NM_007300:exon5:c.301+1C>T	.	.	17q21.31	.	rs587782173	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	4.927	25.0	0.989	0.988	D	.	.	.	.	0.164	0	5.3	0.871	0.935	0.988	0.989	16.263	Deleterious (FATHMM)
1629	17	43104957	G	A	Pathogenic	BRCA1	.	.	.	.	.	.	.	.	.	.	17	43104957	43104957	G	A	splicing	BRCA1	NM_007297:exon4:c.72-1C>T,NM_007294:exon5:c.213-1C>T,NM_007298:exon4:c.213-1C>T,NM_007299:exon5:c.213-1C>T,NM_007300:exon5:c.213-1C>T	.	.	17q21.31	.	.	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	5.626	26.6	0.992	0.972	D	.	.	.	.	0.164	0	5.3	0.871	0.935	0.977	0.998	15.802	Deleterious (FATHMM)
1630	17	43104958	A	G	Pathogenic	BRCA1	.	.	.	.	.	.	.	.	.	.	17	43104958	43104958	A	G	splicing	BRCA1	NM_007297:exon4:c.72-2T>C,NM_007294:exon5:c.213-2T>C,NM_007298:exon4:c.213-2T>C,NM_007299:exon5:c.213-2T>C,NM_007300:exon5:c.213-2T>C	.	.	17q21.31	.	rs397508940	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	4.990	25.1	0.981	0.972	D	.	.	.	.	0.106	0	5.3	0.991	1.061	0.973	1.000	12.729	Deleterious (FATHMM)
1631	17	43104967	T	G	Pathogenic	BRCA1	.	.	.	.	.	.	.	.	.	.	17	43104967	43104967	T	G	intronic	BRCA1	.	.	.	17q21.31	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	probably Tolerated (Intron)
1632	17	43104968	A	G	Pathogenic	BRCA1	.	.	.	.	.	.	.	.	.	.	17	43104968	43104968	A	G	intronic	BRCA1	.	.	.	17q21.31	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	probably Tolerated (Intron)
1633	17	43106455	G	T	Pathogenic	BRCA1	.	.	.	.	.	.	.	.	.	.	17	43106455	43106455	G	T	splicing	BRCA1	NM_007297:exon3:c.71+1C>A,NM_007294:exon4:c.212+1C>A,NM_007298:exon3:c.212+1C>A,NM_007299:exon4:c.212+1C>A,NM_007300:exon4:c.212+1C>A	.	.	17q21.31	.	rs80358042	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	5.347	25.9	0.992	0.964	D	.	.	.	.	0.164	0	4.64	0.871	0.791	0.969	0.998	14.711	Deleterious (FATHMM)
1634	17	43106455	G	A	Pathogenic	BRCA1	.	.	.	.	.	.	.	.	.	.	17	43106455	43106455	G	A	splicing	BRCA1	NM_007297:exon3:c.71+1C>T,NM_007294:exon4:c.212+1C>T,NM_007298:exon3:c.212+1C>T,NM_007299:exon4:c.212+1C>T,NM_007300:exon4:c.212+1C>T	.	.	17q21.31	.	rs80358042	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	5.455	26.1	0.992	0.967	D	.	.	.	.	0.164	0	4.64	0.871	0.791	0.969	0.998	14.711	Deleterious (FATHMM)
1635	17	43106456	G	T	Pathogenic/Likely pathogenic	BRCA1	.	.	.	.	.	.	.	.	.	.	17	43106456	43106456	G	T	exonic	BRCA1	.	nonsynonymous SNV	BRCA1:NM_007297:exon3:c.G71A:p.R24K,BRCA1:NM_007298:exon3:c.G212A:p.R71K,BRCA1:NM_007294:exon4:c.G212A:p.R71K,BRCA1:NM_007299:exon4:c.G212A:p.R71K,BRCA1:NM_007300:exon4:c.G212A:p.R71K	17q21.31	.	rs80356913	0.026	D	0.999	D	0.987	D	0.000	D	1	D	2.135	M	-1.98	D	-0.1	N	0.863	4.511	24.3	0.995	0.964	D	0.780	D	0.843	D	0.651	0	4.64	0.871	0.791	0.986	0.999	14.711	Deleterious
1636	17	43106457	A	G	Pathogenic/Likely pathogenic	BRCA1	.	.	.	.	.	.	.	.	.	.	17	43106457	43106457	A	G	exonic	BRCA1	.	synonymous SNV	BRCA1:NM_007297:exon3:c.A70C:p.R24R,BRCA1:NM_007298:exon3:c.A211C:p.R71R,BRCA1:NM_007294:exon4:c.A211C:p.R71R,BRCA1:NM_007299:exon4:c.A211C:p.R71R,BRCA1:NM_007300:exon4:c.A211C:p.R71R	17q21.31	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
1637	17	43106476	T	G	Pathogenic/Likely pathogenic	BRCA1	.	.	.	.	.	.	.	.	.	.	17	43106476	43106476	T	G	exonic	BRCA1	.	synonymous SNV	BRCA1:NM_007297:exon3:c.T51C:p.C17C,BRCA1:NM_007298:exon3:c.T192C:p.C64C,BRCA1:NM_007294:exon4:c.T192C:p.C64C,BRCA1:NM_007299:exon4:c.T192C:p.C64C,BRCA1:NM_007300:exon4:c.T192C:p.C64C	17q21.31	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
1638	17	43106477	G	A	Pathogenic	BRCA1	.	.	.	.	.	.	.	.	.	.	17	43106477	43106477	G	A	exonic	BRCA1	.	nonsynonymous SNV	BRCA1:NM_007297:exon3:c.G50T:p.C17F,BRCA1:NM_007298:exon3:c.G191T:p.C64F,BRCA1:NM_007294:exon4:c.G191T:p.C64F,BRCA1:NM_007299:exon4:c.G191T:p.C64F,BRCA1:NM_007300:exon4:c.G191T:p.C64F	17q21.31	.	.	0.001	D	1.0	D	0.999	D	0.000	D	1	D	4.325	H	-4.01	D	-1.23	N	0.963	6.614	32	0.992	0.967	D	0.938	D	0.993	D	0.651	0	4.64	0.871	0.791	0.999	1.000	14.711	Deleterious
1639	17	43106534	G	T	Pathogenic	BRCA1	.	.	.	.	.	.	.	.	.	.	17	43106534	43106534	G	T	splicing	BRCA1	NM_007294:exon4:c.135-1C>A,NM_007298:exon3:c.135-1C>A,NM_007299:exon4:c.135-1C>A,NM_007300:exon4:c.135-1C>A	.	.	17q21.31	.	.	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	5.100	25.3	0.991	0.930	D	.	.	.	.	0.322	0	4.64	0.871	0.791	1.000	1.000	13.198	Deleterious (FATHMM)
1640	17	43106535	A	G	Pathogenic/Likely pathogenic	BRCA1	.	.	.	.	.	.	.	.	.	.	17	43106535	43106535	A	G	splicing	BRCA1	NM_007294:exon4:c.135-2T>C,NM_007298:exon3:c.135-2T>C,NM_007299:exon4:c.135-2T>C,NM_007300:exon4:c.135-2T>C	.	.	17q21.31	.	.	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	4.566	24.4	0.983	0.882	D	.	.	.	.	0.106	0	4.55	0.938	0.895	0.999	0.999	10.448	Deleterious (FATHMM)
1641	17	43115724	T	C	Pathogenic	BRCA1	.	.	.	.	.	.	.	.	.	.	17	43115724	43115724	T	C	splicing	BRCA1	NM_007294:exon3:c.134+2A>G,NM_007298:exon2:c.134+2A>G,NM_007299:exon3:c.134+2A>G,NM_007300:exon3:c.134+2A>G	.	.	17q21.31	.	rs80358131	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	4.880	24.9	0.989	0.931	D	.	.	.	.	0.322	0	5.97	1.062	1.199	0.989	1.000	12.853	Deleterious (FATHMM)
1642	17	43115780	G	A	Pathogenic/Likely pathogenic	BRCA1	.	.	.	.	.	.	.	.	.	.	17	43115780	43115780	G	A	splicing	BRCA1	NM_007294:exon3:c.81-1C>T,NM_007298:exon2:c.81-1C>T,NM_007299:exon3:c.81-1C>T,NM_007300:exon3:c.81-1C>T	.	.	17q21.31	.	.	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	5.374	25.9	0.991	0.914	D	.	.	.	.	0.322	0	5.97	0.871	0.935	0.953	0.959	15.939	Deleterious (FATHMM)
1643	17	43124094	G	T	Pathogenic	BRCA1	.	.	.	.	.	.	.	.	.	.	17	43124094	43124094	G	T	exonic	BRCA1	.	nonsynonymous SNV	BRCA1:NM_007298:exon1:c.G3A:p.M1I,BRCA1:NM_007294:exon2:c.G3A:p.M1I,BRCA1:NM_007299:exon2:c.G3A:p.M1I,BRCA1:NM_007300:exon2:c.G3A:p.M1I	17q21.31	.	.	0.025	D	0.993	D	0.956	D	0.000	D	1	D	.	.	-1.84	D	-0.46	N	0.96	5.867	27.3	0.997	0.682	D	0.522	D	0.710	D	0.635	0	3.83	0.871	-0.039	0.995	0.931	11.102	Deleterious
1644	17	43124096	A	G	Pathogenic	BRCA1	.	.	.	.	.	.	.	.	.	.	17	43124096	43124096	A	G	exonic	BRCA1	.	nonsynonymous SNV	BRCA1:NM_007298:exon1:c.A1C:p.M1L,BRCA1:NM_007294:exon2:c.A1C:p.M1L,BRCA1:NM_007299:exon2:c.A1C:p.M1L,BRCA1:NM_007300:exon2:c.A1C:p.M1L	17q21.31	.	.	0.025	D	0.984	D	0.935	D	0.000	D	1	D	.	.	-1.8	D	-0.34	N	0.92	5.494	26.2	0.944	0.813	D	0.354	D	0.654	D	0.635	0	3.83	0.991	0.724	0.990	0.901	8.925	Deleterious
1645	17	44902549	A	C	Pathogenic	CCDC103	.	.	.	.	.	.	.	.	.	.	17	44902549	44902549	A	C	exonic	CCDC103	.	nonsynonymous SNV	CCDC103:NM_001258395:exon4:c.A461C:p.H154P,CCDC103:NM_001258396:exon4:c.A461C:p.H154P,CCDC103:NM_213607:exon4:c.A461C:p.H154P	17q21.31	0.0010	rs145457535	0.082	T	0.927	P	0.596	P	0.139	U	1.000	N	1.845	L	0.45	T	-2.4	N	0.859	1.829	15.16	0.861	0.919	D	-0.827	T	0.209	T	0.615	0	5.64	1.062	1.199	0.092	0.281	14.585	Tolerated
1646	17	50167431	G	A	Pathogenic/Likely pathogenic	SGCA	.	.	.	.	.	.	.	.	.	.	17	50167431	50167431	G	A	exonic	SGCA	.	nonsynonymous SNV	SGCA:NM_000023:exon2:c.G101A:p.R34H,SGCA:NM_001135697:exon2:c.G101A:p.R34H	17q21.33	0.0002	rs371675217	0.126	T	1.0	D	0.966	D	0.001	D	1	D	1.79	L	-4.98	D	-0.8	N	0.88	3.905	23.5	0.999	0.761	D	1.038	D	0.943	D	0.517	0	4.47	0.917	0.953	0.475	0.883	12.980	Deleterious
1647	17	50167653	C	T	Pathogenic	SGCA	.	.	.	.	.	.	.	.	.	.	17	50167653	50167653	C	T	exonic	SGCA	.	nonsynonymous SNV	SGCA:NM_000023:exon3:c.C229T:p.R77C,SGCA:NM_001135697:exon3:c.C229T:p.R77C	17q21.33	0.0005	rs28933693	0.009	D	1.0	D	0.963	D	0.000	D	1	A	2.085	M	-5.0	D	-5.15	D	0.881	7.958	35	0.999	0.987	D	1.110	D	0.950	D	0.554	0	4.53	0.871	0.852	0.998	0.992	14.553	Deleterious
1648	17	50167717	G	A	Pathogenic/Likely pathogenic	SGCA	.	.	.	.	.	.	.	.	.	.	17	50167717	50167717	G	A	exonic	SGCA	.	nonsynonymous SNV	SGCA:NM_000023:exon3:c.G293A:p.R98H,SGCA:NM_001135697:exon3:c.G293A:p.R98H	17q21.33	7.7e-05	rs137852621	0.114	T	1.0	D	0.998	D	0.034	N	0.001	A	1.79	L	-4.49	D	-0.92	N	0.715	2.750	21.1	0.999	0.115	N	1.058	D	0.928	D	0.554	0	3.53	0.917	0.953	0.818	0.986	10.011	Deleterious
1649	17	50168005	T	C	Pathogenic/Likely pathogenic	SGCA	.	.	.	.	.	.	.	.	.	.	17	50168005	50168005	T	C	exonic	SGCA	.	nonsynonymous SNV	SGCA:NM_000023:exon4:c.T371C:p.I124T,SGCA:NM_001135697:exon4:c.T371C:p.I124T	17q21.33	.	rs768814872	0.014	D	0.998	D	0.948	D	0.019	N	0.995	D	1.955	M	-5.08	D	-2.49	N	0.888	3.548	23.1	0.989	0.829	D	1.052	D	0.946	D	0.616	0	3.69	0.991	0.077	0.981	0.610	7.372	Deleterious
1650	17	50169246	G	A	Pathogenic	SGCA	.	.	.	.	.	.	.	.	.	.	17	50169246	50169246	G	A	exonic	SGCA	.	nonsynonymous SNV	SGCA:NM_000023:exon6:c.G739A:p.V247M	17q21.33	0.0002	rs143570936	0.009	D	0.997	D	0.959	D	0.002	N	1	D	1.7	L	-4.6	D	-0.26	N	0.738	5.676	26.7	0.999	0.838	D	1.044	D	0.919	D	0.422	0	3.85	0.917	1.048	0.998	1.000	8.184	Deleterious
1651	17	50170245	C	T	Pathogenic/Likely pathogenic	SGCA	.	.	.	.	.	.	.	.	.	.	17	50170245	50170245	C	T	exonic	SGCA	.	nonsynonymous SNV	SGCA:NM_000023:exon7:c.C850T:p.R284C	17q21.33	7.7e-05	rs137852623	0.0	D	1.0	D	0.995	D	0.011	N	1	D	2.25	M	-5.65	D	-5.56	D	0.931	7.740	35	0.999	0.718	D	1.079	D	0.975	D	0.554	0	5.8	0.871	0.876	0.881	0.698	14.447	Deleterious
1652	17	50191457	C	T	Pathogenic/Likely pathogenic	COL1A1	.	.	.	.	.	.	.	.	.	.	17	50191457	50191457	C	T	exonic	COL1A1	.	nonsynonymous SNV	COL1A1:NM_000088:exon32:c.C2161A:p.Q721K	17q21.33	.	.	0.536	T	0.909	P	0.749	P	0.000	D	0.992	D	0.19	N	-3.1	D	-1.21	N	0.552	3.255	22.8	0.965	0.821	D	0.133	D	0.654	D	0.732	0	5.3	0.917	1.048	0.998	0.994	17.745	Deleterious
1653	17	50194032	G	A	Pathogenic	COL1A1	.	.	.	.	.	.	.	.	.	.	17	50194032	50194032	G	A	exonic	COL1A1	.	nonsynonymous SNV	COL1A1:NM_000088:exon25:c.G1678T:p.G560C	17q21.33	.	rs67507747	0.0	D	1.0	D	1.0	D	0.000	D	1	D	4.26	H	-5.53	D	-7.18	D	0.999	6.269	29.0	0.994	0.970	D	1.005	D	0.985	D	0.707	0	4.43	0.871	0.852	1.000	0.977	15.986	Deleterious
1654	17	58270865	A	C	Pathogenic	MPO	.	.	.	.	.	.	.	.	.	.	17	58270865	58270865	A	C	splicing	MPO	NM_000250:exon12:c.2031-2T>G	.	.	17q22	.	.	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	4.835	24.8	0.995	0.960	D	.	.	.	.	0.056	0	5.42	0.991	1.061	0.900	0.997	14.657	Deleterious (FATHMM)
1655	17	58692740	C	T	Pathogenic	RAD51C	.	.	.	.	.	.	.	.	.	.	17	58692740	58692740	C	T	exonic	RAD51C	.	stopgain	RAD51C:NM_002876:exon1:c.C97T:p.Q33X,RAD51C:NM_058216:exon1:c.C97T:p.Q33X	17q22	.	rs587782528	.	.	.	.	.	.	0.001	D	1	A	.	.	.	.	.	.	.	10.800	36	0.996	0.849	D	.	.	.	.	0.731	0	4.75	0.871	0.935	0.893	0.994	15.279	Deleterious (FATHMM)
1656	17	58695182	C	T	Pathogenic, risk factor	RAD51C	.	.	.	.	.	.	.	.	.	.	17	58695182	58695182	C	T	exonic	RAD51C	.	stopgain	RAD51C:NM_002876:exon2:c.C397T:p.Q133X,RAD51C:NM_058216:exon2:c.C397T:p.Q133X	17q22	.	rs387907159	.	.	.	.	.	.	0.000	D	1	A	.	.	.	.	.	.	.	11.328	37	0.998	0.906	D	.	.	.	.	0.706	0	4.43	0.871	0.931	1.000	1.000	13.318	Deleterious (FATHMM)
1657	17	58696790	A	T	Pathogenic	RAD51C	.	.	.	.	.	.	.	.	.	.	17	58696790	58696790	A	T	exonic	RAD51C	.	stopgain	RAD51C:NM_058216:exon3:c.A502T:p.R168X	17q22	.	rs587781490	.	.	.	.	.	.	0.000	D	1	A	.	.	.	.	.	.	.	12.711	40	0.997	0.774	D	.	.	.	.	0.706	0	4.51	1.062	1.193	0.999	1.000	11.441	Deleterious (FATHMM)
1658	17	58703201	C	T	Pathogenic	RAD51C	.	.	.	.	.	.	.	.	.	.	17	58703201	58703201	C	T	exonic	RAD51C	.	stopgain	RAD51C:NM_058216:exon4:c.C577T:p.R193X	17q22	.	rs200293302	.	.	.	.	.	.	0.357	N	1	A	.	.	.	.	.	.	.	11.582	37	0.997	0.150	N	.	.	.	.	0.731	0	3.8	-0.032	0.024	0.690	0.116	6.891	Deleterious (DANN)
1659	17	58709857	A	G	Pathogenic/Likely pathogenic	RAD51C	.	.	.	.	.	.	.	.	.	.	17	58709857	58709857	A	G	splicing	RAD51C	NM_058216:exon5:c.706-2A>G	.	.	17q22	.	rs587780259	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	4.801	24.8	0.980	0.938	D	.	.	.	.	0.295	0	6.0	1.062	1.171	0.988	0.736	15.328	Deleterious (FATHMM)
1660	17	58709862	C	T	Pathogenic	RAD51C	.	.	.	.	.	.	.	.	.	.	17	58709862	58709862	C	T	exonic	RAD51C	.	stopgain	RAD51C:NM_058216:exon5:c.C709T:p.R237X	17q22	.	rs770637624	.	.	.	.	.	.	0.000	D	1	A	.	.	.	.	.	.	.	11.896	38	0.997	0.780	D	.	.	.	.	0.706	0	5.02	0.871	0.024	0.675	0.434	13.030	Deleterious (FATHMM)
1661	17	58724049	G	A	Pathogenic/Likely pathogenic	RAD51C	.	.	.	.	.	.	.	.	.	.	17	58724049	58724049	G	A	exonic	RAD51C	.	stopgain	RAD51C:NM_058216:exon7:c.G914A:p.W305X	17q22	.	.	.	.	.	.	.	.	0.000	D	1	A	.	.	.	.	.	.	.	13.047	41	0.989	0.915	D	.	.	.	.	0.732	0	5.11	0.917	0.143	1.000	0.998	12.287	Deleterious (FATHMM)
1662	17	58724090	C	T	Pathogenic	RAD51C	.	.	.	.	.	.	.	.	.	.	17	58724090	58724090	C	T	exonic	RAD51C	.	stopgain	RAD51C:NM_058216:exon7:c.C955T:p.R319X	17q22	.	rs587781287	.	.	.	.	.	.	0.823	N	1	A	.	.	.	.	.	.	.	13.957	44	0.997	0.715	D	.	.	.	.	0.732	0	3.87	0.871	0.935	0.998	0.841	11.613	Deleterious (FATHMM)
1663	17	61685976	T	G	Pathogenic	BRIP1	.	.	.	.	.	.	.	.	.	.	17	61685976	61685976	T	G	exonic	BRIP1	.	nonsynonymous SNV	BRIP1:NM_032043:exon19:c.T2765C:p.L922S	17q23.2	.	.	0.051	T	0.501	P	0.116	B	0.902	N	1	N	1.355	L	-0.95	T	-0.53	N	0.359	1.157	11.52	0.996	0.073	N	-0.863	T	0.267	T	0.638	0	4.71	1.062	1.199	0.007	0.040	8.689	Tolerated
1664	17	61716043	C	G	Pathogenic	BRIP1	.	.	.	.	.	.	.	.	.	.	17	61716043	61716043	C	G	exonic	BRIP1	.	synonymous SNV	BRIP1:NM_032043:exon17:c.C2400C:p.Y800Y	17q23.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
1665	17	61780325	C	A	Pathogenic	BRIP1	.	.	.	.	.	.	.	.	.	.	17	61780325	61780325	C	A	exonic	BRIP1	.	nonsynonymous SNV	BRIP1:NM_032043:exon13:c.C1871T:p.S624L	17q23.2	.	rs587781321	0.003	D	1.0	D	0.998	D	0.000	D	1	D	2.71	M	1.98	T	-4.48	D	0.827	7.374	34	0.999	0.995	D	-0.798	T	0.177	T	0.706	0	5.54	0.917	0.953	0.998	0.995	18.483	Tolerated
1666	17	61793698	G	T	Pathogenic	BRIP1	.	.	.	.	.	.	.	.	.	.	17	61793698	61793698	G	T	exonic	BRIP1	.	nonsynonymous SNV	BRIP1:NM_032043:exon10:c.G1372A:p.E458K	17q23.2	.	.	0.265	T	0.991	D	0.686	P	0.064	N	1.000	D	1.56	L	-0.89	T	-1.3	N	0.769	5.619	26.6	0.999	0.994	D	-0.296	T	0.407	T	0.651	0	4.71	0.871	0.892	0.997	0.994	16.398	Tolerated
1667	17	61799125	C	T	Pathogenic/Likely pathogenic	BRIP1	.	.	.	.	.	.	.	.	.	.	17	61799125	61799125	C	T	exonic	BRIP1	.	synonymous SNV	BRIP1:NM_032043:exon9:c.C1315A:p.R439R	17q23.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
1668	17	61801327	C	T	Pathogenic	BRIP1	.	.	.	.	.	.	.	.	.	.	17	61801327	61801327	C	T	exonic	BRIP1	.	synonymous SNV	BRIP1:NM_032043:exon8:c.C1066A:p.R356R	17q23.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
1669	17	61847100	G	A	Pathogenic/Likely pathogenic	BRIP1	.	.	.	.	.	.	.	.	.	.	17	61847100	61847100	G	A	splicing	BRIP1	NM_032043:exon6:c.627+1C>T	.	.	17q23.2	.	.	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	4.165	23.8	0.984	0.952	D	.	.	.	.	0.106	0	5.26	0.871	0.935	0.988	0.999	15.966	Deleterious (FATHMM)
1670	17	61849152	C	T	Pathogenic	BRIP1	.	.	.	.	.	.	.	.	.	.	17	61849152	61849152	C	T	exonic	BRIP1	.	synonymous SNV	BRIP1:NM_032043:exon5:c.C484A:p.R162R	17q23.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
1671	17	61849173	C	T	Pathogenic	BRIP1	.	.	.	.	.	.	.	.	.	.	17	61849173	61849173	C	T	exonic	BRIP1	.	nonsynonymous SNV	BRIP1:NM_032043:exon5:c.C463A:p.Q155K	17q23.2	.	.	0.097	T	0.997	D	0.98	D	0.000	D	0.994	D	1.87	L	0.73	T	-1.28	N	0.758	3.051	22.4	0.994	0.861	D	-0.696	T	0.269	T	0.707	0	5.95	0.917	1.048	1.000	1.000	17.126	Tolerated
1672	17	61859868	G	T	Pathogenic	BRIP1	.	.	.	.	.	.	.	.	.	.	17	61859868	61859868	G	T	exonic	BRIP1	.	nonsynonymous SNV	BRIP1:NM_032043:exon3:c.G133A:p.E45K	17q23.2	.	rs587781292	0.0	D	1.0	D	0.996	D	0.000	D	1.000	D	3.225	M	0.5	T	-3.23	D	0.971	7.221	34	0.993	0.989	D	0.010	D	0.445	T	0.707	0	5.56	0.871	0.892	1.000	1.000	18.515	Tolerated
1673	17	63483494	C	T	Pathogenic/Likely pathogenic	ACE	.	.	.	.	.	.	.	.	.	.	17	63483494	63483494	C	T	exonic	ACE	.	stopgain	ACE:NM_000789:exon10:c.C1522T:p.R508X	17q23.3	7.7e-05	rs367797185	.	.	.	.	.	.	0.000	D	1	A	.	.	.	.	.	.	.	10.189	36	0.998	0.779	D	.	.	.	.	0.707	0	3.91	0.871	0.935	0.994	0.508	8.759	Deleterious (FATHMM)
1674	17	63941940	C	T	Pathogenic	SCN4A	.	.	.	.	.	.	.	.	.	.	17	63941940	63941940	C	T	exonic	SCN4A	.	nonsynonymous SNV	SCN4A:NM_000334:exon24:c.C4342A:p.R1448S	17q23.3	.	.	0.0	D	1.0	D	0.994	D	0.000	D	1.000	D	2.39	M	-4.54	D	-5.56	D	0.973	5.676	26.7	0.998	0.850	D	1.045	D	0.940	D	0.646	0	3.71	0.917	0.953	0.999	0.883	9.189	Deleterious
1675	17	70175691	C	T	Pathogenic	KCNJ2	.	.	.	.	.	.	.	.	.	.	17	70175691	70175691	C	T	exonic	KCNJ2	.	nonsynonymous SNV	KCNJ2:NM_000891:exon2:c.C652T:p.R218W	17q24.3	.	rs104894578	0.0	D	1.0	D	1.0	D	0.000	D	1.000	A	3.99	H	-4.23	D	-7.72	D	0.991	6.256	28.9	0.999	0.900	D	1.077	D	0.966	D	0.707	0	4.73	0.871	0.935	0.996	0.919	14.938	Deleterious
1676	17	70175692	G	A	Pathogenic	KCNJ2	.	.	.	.	.	.	.	.	.	.	17	70175692	70175692	G	A	exonic	KCNJ2	.	nonsynonymous SNV	KCNJ2:NM_000891:exon2:c.G653A:p.R218Q	17q24.3	.	rs199473384	0.0	D	1.0	D	0.999	D	0.000	D	1	D	2.895	M	-4.17	D	-3.83	D	0.969	6.352	29.4	0.999	0.992	D	1.065	D	0.947	D	0.707	0	5.76	0.917	1.048	0.995	0.910	19.966	Deleterious
1677	17	75522000	G	T	Pathogenic	TSEN54	.	.	.	.	.	.	.	.	.	.	17	75522000	75522000	G	T	exonic	TSEN54	.	nonsynonymous SNV	TSEN54:NM_207346:exon8:c.G919T:p.A307S	17q25.1	0.0009	rs113994152	0.024	D	0.997	D	0.876	P	0.000	D	0.988	A	1.995	M	-0.26	T	-0.76	N	0.729	5.311	25.8	0.975	0.967	D	-0.205	T	0.425	T	0.706	0	5.14	0.917	0.940	0.944	0.997	18.603	Tolerated
1678	17	75836338	G	A	Pathogenic/Likely pathogenic	UNC13D	.	.	.	.	.	.	.	.	.	.	17	75836338	75836338	G	A	splicing	UNC13D	NM_199242:exon15:c.1389+1C>T	.	.	17q25.1	.	.	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	3.885	23.5	0.989	0.993	D	.	.	.	.	0.257	0	4.34	0.871	0.852	0.048	0.059	17.021	Deleterious (FATHMM)
1679	17	75840506	G	T	Pathogenic	UNC13D	.	.	.	.	.	.	.	.	.	.	17	75840506	75840506	G	T	splicing	UNC13D	NM_199242:exon9:c.753+1C>A	.	.	17q25.1	.	.	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	4.844	24.8	0.990	0.973	D	.	.	.	.	0.284	0	3.02	0.871	0.843	0.913	0.936	13.483	Deleterious (FATHMM)
1680	17	80104542	T	G	Pathogenic	GAA	.	.	.	.	.	.	.	.	.	.	17	80104542	80104542	T	G	intronic	GAA	.	.	.	17q25.3	0.0042	rs386834236	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	probably Tolerated (Intron)
1681	17	80104893	T	G	Pathogenic	GAA	.	.	.	.	.	.	.	.	.	.	17	80104893	80104893	T	G	exonic	GAA	.	nonsynonymous SNV	GAA:NM_000152:exon2:c.T307G:p.C103G,GAA:NM_001079804:exon2:c.T307G:p.C103G,GAA:NM_001079803:exon3:c.T307G:p.C103G	17q25.3	.	rs398123174	0.0	D	1.0	D	1.0	D	0.000	D	1.000	D	3.755	H	-3.46	D	-10.77	D	0.972	4.266	23.9	0.979	0.978	D	1.095	D	0.946	D	0.696	0	4.94	0.991	0.964	0.997	0.394	13.567	Deleterious
1682	17	80105857	G	A	Pathogenic/Likely pathogenic	GAA	.	.	.	.	.	.	.	.	.	.	17	80105857	80105857	G	A	exonic	GAA	.	nonsynonymous SNV	GAA:NM_000152:exon3:c.G655A:p.G219R,GAA:NM_001079804:exon3:c.G655A:p.G219R,GAA:NM_001079803:exon4:c.G655A:p.G219R	17q25.3	7.7e-05	rs370950728	0.026	D	1.0	D	0.984	D	0.000	D	1.000	D	2.82	M	-1.84	D	-6.08	D	0.949	6.030	28.0	0.999	0.986	D	0.720	D	0.785	D	0.696	0	5.15	0.917	0.953	0.195	0.700	18.208	Deleterious
1683	17	80110837	G	A	Pathogenic/Likely pathogenic	GAA	.	.	.	.	.	.	.	.	.	.	17	80110837	80110837	G	A	exonic	GAA	.	stopgain	GAA:NM_000152:exon10:c.G1548A:p.W516X,GAA:NM_001079804:exon10:c.G1548A:p.W516X,GAA:NM_001079803:exon11:c.G1548A:p.W516X	17q25.3	7.7e-05	rs140826989	.	.	.	.	.	.	0.000	D	1	A	.	.	.	.	.	.	.	11.587	37	0.997	0.991	D	.	.	.	.	0.706	0	4.4	0.917	1.045	0.994	0.952	13.582	Deleterious (FATHMM)
1684	17	80112001	T	C	Pathogenic	GAA	.	.	.	.	.	.	.	.	.	.	17	80112001	80112001	T	C	exonic	GAA	.	nonsynonymous SNV	GAA:NM_000152:exon12:c.T1655C:p.L552P,GAA:NM_001079804:exon12:c.T1655C:p.L552P,GAA:NM_001079803:exon13:c.T1655C:p.L552P	17q25.3	.	rs779556619	0.0	D	1.0	D	0.995	D	0.000	D	1	D	3.78	H	-3.03	D	-6.43	D	0.962	5.348	25.9	0.999	0.967	D	1.048	D	0.908	D	0.713	0	4.65	0.991	0.964	0.941	0.420	13.720	Deleterious
1685	17	80112966	G	A	Pathogenic/Likely pathogenic	GAA	.	.	.	.	.	.	.	.	.	.	17	80112966	80112966	G	A	exonic	GAA	.	nonsynonymous SNV	GAA:NM_000152:exon14:c.G1979A:p.R660H,GAA:NM_001079804:exon14:c.G1979A:p.R660H,GAA:NM_001079803:exon15:c.G1979A:p.R660H	17q25.3	7.7e-05	rs374143224	0.0	D	1.0	D	1.0	D	0.000	D	1.000	D	4.065	H	-4.37	D	-4.91	D	0.965	7.584	34	1.000	0.992	D	1.089	D	0.968	D	0.742	0	4.69	0.917	0.949	1.000	1.000	17.227	Deleterious
1686	17	80113001	C	T	Pathogenic/Likely pathogenic	GAA	.	.	.	.	.	.	.	.	.	.	17	80113001	80113001	C	T	exonic	GAA	.	nonsynonymous SNV	GAA:NM_000152:exon14:c.C2014T:p.R672W,GAA:NM_001079804:exon14:c.C2014T:p.R672W,GAA:NM_001079803:exon15:c.C2014T:p.R672W	17q25.3	.	rs757111744	0.0	D	1.0	D	1.0	D	0.000	D	1.000	D	4.26	H	-3.69	D	-7.86	D	0.94	7.336	34	0.999	0.850	D	0.993	D	0.945	D	0.706	0	2.45	0.871	0.848	1.000	0.999	8.356	Deleterious
1687	17	80117016	G	C	Pathogenic	GAA	.	.	.	.	.	.	.	.	.	.	17	80117016	80117016	G	C	exonic	GAA	.	nonsynonymous SNV	GAA:NM_000152:exon16:c.G2238C:p.W746C,GAA:NM_001079804:exon16:c.G2238C:p.W746C,GAA:NM_001079803:exon17:c.G2238C:p.W746C	17q25.3	0.0003	rs1800312	0.001	D	1.0	D	1.0	D	0.000	D	1	D	2.56	M	-2.92	D	-12.54	D	0.973	6.872	33	0.992	0.994	D	0.957	D	0.876	D	0.718	0	5.1	0.917	0.902	0.996	0.991	18.084	Deleterious
1688	17	80118271	C	T	Pathogenic	GAA	.	.	.	.	.	.	.	.	.	.	17	80118271	80118271	C	T	exonic	GAA	.	stopgain	GAA:NM_000152:exon18:c.C2560T:p.R854X,GAA:NM_001079804:exon18:c.C2560T:p.R854X,GAA:NM_001079803:exon19:c.C2560T:p.R854X	17q25.3	0.0008	rs121907943	.	.	.	.	.	.	0.700	N	1	A	.	.	.	.	.	.	.	11.778	38	0.993	0.108	N	.	.	.	.	0.706	0	3.52	-1.490	0.021	0.010	0.021	10.955	Deleterious (DANN)
1689	17	80212128	T	C	Pathogenic	SGSH	.	.	.	.	.	.	.	.	.	.	17	80212128	80212128	T	C	exonic	SGSH	.	nonsynonymous SNV	SGSH:NM_000199:exon7:c.T892G:p.S298A	17q25.3	.	.	0.085	T	0.998	D	0.977	D	0.000	D	1	D	1.58	L	-3.94	D	-2.33	N	0.622	3.370	22.9	0.995	0.997	D	0.692	D	0.859	D	0.707	0	4.62	1.062	1.088	0.403	0.354	13.661	Deleterious
1690	17	80213815	G	A	Pathogenic	SGSH	.	.	.	.	.	.	.	.	.	.	17	80213815	80213815	G	A	exonic	SGSH	.	nonsynonymous SNV	SGSH:NM_000199:exon6:c.G734T:p.R245L	17q25.3	.	.	0.0	D	0.994	D	0.978	D	0.000	D	1	D	2.09	M	-5.02	D	-6.2	D	0.972	7.429	34	0.958	0.995	D	1.038	D	0.948	D	0.707	0	4.47	0.871	0.852	0.993	0.985	15.085	Deleterious
1691	17	80217061	C	T	Pathogenic	SGSH	.	.	.	.	.	.	.	.	.	.	17	80217061	80217061	C	T	exonic	SGSH	.	nonsynonymous SNV	SGSH:NM_000199:exon2:c.C220A:p.R74S	17q25.3	.	.	0.0	D	1.0	D	1.0	D	0.000	D	1	D	4.465	H	-4.76	D	-5.7	D	0.859	6.795	32	0.998	0.942	D	1.041	D	0.977	D	0.651	0	3.74	0.866	0.953	0.989	0.971	11.034	Deleterious
1692	17	80217084	C	G	Pathogenic	SGSH	.	.	.	.	.	.	.	.	.	.	17	80217084	80217084	C	G	exonic	SGSH	.	synonymous SNV	SGSH:NM_000199:exon2:c.C197C:p.S66S	17q25.3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
1693	18	23533495	C	A	Pathogenic/Likely pathogenic	NPC1	.	.	.	.	.	.	.	.	.	.	18	23533495	23533495	C	A	exonic	NPC1	.	nonsynonymous SNV	NPC1:NM_000271:exon24:c.C3614T:p.T1205I	18q11.2	.	.	0.0	D	1.0	D	1.0	D	0.000	D	1	D	3.76	H	-3.31	D	-5.43	D	0.98	6.532	31	0.999	0.980	D	1.080	D	0.934	D	0.707	0	5.54	0.830	0.949	0.999	0.996	19.485	Deleterious
1694	18	23536736	T	C	Pathogenic	NPC1	.	.	.	.	.	.	.	.	.	.	18	23536736	23536736	T	C	exonic	NPC1	.	nonsynonymous SNV	NPC1:NM_000271:exon21:c.T3182G:p.I1061R	18q11.2	.	.	0.0	D	0.934	P	0.948	D	0.175	N	1.000	D	2.55	M	-2.48	D	-5.85	D	0.718	5.163	25.5	0.988	0.994	D	0.789	D	0.828	D	0.707	0	6.04	0.960	1.199	0.553	0.484	16.576	Deleterious
1695	18	23538564	C	G	Pathogenic	NPC1	.	.	.	.	.	.	.	.	.	.	18	23538564	23538564	C	G	exonic	NPC1	.	synonymous SNV	NPC1:NM_000271:exon20:c.C3019C:p.P1007P	18q11.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
1696	18	23538609	G	C	Pathogenic/Likely pathogenic	NPC1	.	.	.	.	.	.	.	.	.	.	18	23538609	23538609	G	C	exonic	NPC1	.	synonymous SNV	NPC1:NM_000271:exon20:c.G2974G:p.G992G	18q11.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
1697	18	23539405	C	T	Pathogenic/Likely pathogenic	NPC1	.	.	.	.	.	.	.	.	.	.	18	23539405	23539405	C	T	exonic	NPC1	.	stopgain	NPC1:NM_000271:exon19:c.C2861A:p.S954X	18q11.2	.	.	.	.	.	.	.	.	0.000	D	1	A	.	.	.	.	.	.	.	13.406	42	0.994	0.981	D	.	.	.	.	0.722	0	5.25	0.830	1.048	0.098	0.048	19.210	Deleterious (FATHMM)
1698	18	23539418	G	A	Pathogenic/Likely pathogenic	NPC1	.	.	.	.	.	.	.	.	.	.	18	23539418	23539418	G	A	exonic	NPC1	.	nonsynonymous SNV	NPC1:NM_000271:exon19:c.G2848T:p.V950L	18q11.2	.	.	0.19	T	0.0	B	0.001	B	0.002	N	1.000	D	0.04	N	-2.41	D	-0.99	N	0.486	2.270	17.97	0.964	0.884	D	-0.717	T	0.328	T	0.722	0	0.33	-0.024	0.935	0.540	0.726	10.369	Tolerated
1699	18	23551653	C	T	Pathogenic/Likely pathogenic	NPC1	.	.	.	.	.	.	.	.	.	.	18	23551653	23551653	C	T	exonic	NPC1	.	nonsynonymous SNV	NPC1:NM_000271:exon10:c.C1628A:p.P543Q	18q11.2	.	.	0.0	D	1.0	D	0.999	D	0.000	D	1	D	3.465	M	-3.76	D	-7.69	D	0.898	6.294	29.1	0.993	0.998	D	1.086	D	0.949	D	0.707	0	5.67	0.830	1.048	0.993	0.964	19.770	Deleterious
1700	18	23554758	G	A	Pathogenic/Likely pathogenic	NPC1	.	.	.	.	.	.	.	.	.	.	18	23554758	23554758	G	A	exonic	NPC1	.	nonsynonymous SNV	NPC1:NM_000271:exon9:c.G1553T:p.R518L	18q11.2	.	.	0.104	T	0.618	P	0.219	B	0.000	D	1	D	2.34	M	-2.36	D	-3.36	D	0.872	5.708	26.8	0.996	0.981	D	0.480	D	0.737	D	0.707	0	4.58	0.791	0.932	0.911	0.995	12.248	Deleterious
1701	18	23556358	G	A	Pathogenic/Likely pathogenic	NPC1	.	.	.	.	.	.	.	.	.	.	18	23556358	23556358	G	A	exonic	NPC1	.	nonsynonymous SNV	NPC1:NM_000271:exon8:c.G1211T:p.R404L	18q11.2	.	.	0.0	D	1.0	D	1.0	D	0.000	N	1	D	3.51	H	-2.37	D	-6.97	D	0.678	7.647	35	0.999	0.995	D	0.995	D	0.872	D	0.719	0	4.79	0.791	0.935	0.973	0.958	16.305	Deleterious
1702	18	31086672	C	G	Pathogenic/Likely pathogenic	DSC2	.	.	.	.	.	.	.	.	.	.	18	31086672	31086672	C	G	exonic	DSC2	.	synonymous SNV	DSC2:NM_004949:exon7:c.C846C:p.Y282Y,DSC2:NM_024422:exon7:c.C846C:p.Y282Y	18q12.1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
1703	18	31087781	T	A	Pathogenic/Likely pathogenic	DSC2	.	.	.	.	.	.	.	.	.	.	18	31087781	31087781	T	A	exonic	DSC2	.	synonymous SNV	DSC2:NM_004949:exon6:c.T663T:p.Y221Y,DSC2:NM_024422:exon6:c.T663T:p.Y221Y	18q12.1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
1704	18	31087815	A	G	Pathogenic/Likely pathogenic	DSC2	.	.	.	.	.	.	.	.	.	.	18	31087815	31087815	A	G	splicing	DSC2	NM_004949:exon6:c.631-2T>C,NM_024422:exon6:c.631-2T>C	.	.	18q12.1	.	.	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	3.065	22.4	0.975	0.988	D	.	.	.	.	0.099	0	4.9	0.991	1.061	0.840	0.023	13.648	Deleterious (FATHMM)
1705	18	31519858	G	A	Pathogenic/Likely pathogenic	DSG2	.	.	.	.	.	.	.	.	.	.	18	31519858	31519858	G	A	exonic	DSG2	.	nonsynonymous SNV	DSG2:NM_001943:exon3:c.G137A:p.R46Q	18q12.1	.	rs121913008	0.0	D	1.0	D	0.998	D	0.003	U	0.101	A	3.505	H	-0.68	T	-3.53	D	0.89	6.317	29.2	0.971	0.952	D	0.278	D	0.730	D	0.707	0	5.21	0.917	1.048	0.680	0.291	17.299	Deleterious
1706	18	31519867	G	A	Pathogenic/Likely pathogenic	DSG2	.	.	.	.	.	.	.	.	.	.	18	31519867	31519867	G	A	exonic	DSG2	.	nonsynonymous SNV	DSG2:NM_001943:exon3:c.G146A:p.R49H	18q12.1	.	rs121913006	0.0	D	1.0	D	0.997	D	0.003	U	0.971	A	3.495	M	-0.87	T	-4.66	D	0.921	6.694	32	0.975	0.969	D	0.777	D	0.758	D	0.707	0	5.21	0.917	1.048	0.683	0.249	17.299	Deleterious
1707	18	31521245	T	C	Pathogenic/Likely pathogenic	DSG2	.	.	.	.	.	.	.	.	.	.	18	31521245	31521245	T	C	splicing	DSG2	NM_001943:exon5:c.523+2T>C	.	.	18q12.1	.	rs397516709	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	3.390	23.0	0.986	0.988	D	.	.	.	.	0.099	0	5.62	0.991	1.061	0.815	0.837	15.816	Deleterious (FATHMM)
1708	18	31541191	A	G	Pathogenic/Likely pathogenic	DSG2	.	.	.	.	.	.	.	.	.	.	18	31541191	31541191	A	G	splicing	DSG2	NM_001943:exon13:c.1880-2A>G	.	.	18q12.1	.	rs397514038	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	3.231	22.8	0.986	0.988	D	.	.	.	.	0.295	0	5.77	1.062	1.199	0.813	0.037	15.562	Deleterious (FATHMM)
1709	18	31592974	G	A	Pathogenic	TTR	.	.	.	.	.	.	.	.	.	.	18	31592974	31592974	G	A	exonic	TTR	.	nonsynonymous SNV	TTR:NM_000371:exon2:c.G148A:p.V50M	18q12.1	.	rs28933979	0.025	D	0.999	D	0.969	D	0.000	D	1.000	D	3.305	M	-4.42	D	-1.57	N	0.919	5.083	25.3	0.999	0.738	D	1.085	D	0.961	D	0.447	0	5.71	0.917	1.048	0.856	0.395	19.820	Deleterious
1710	18	31595129	T	A	Pathogenic/Likely pathogenic	TTR	.	.	.	.	.	.	.	.	.	.	18	31595129	31595129	T	A	exonic	TTR	.	nonsynonymous SNV	TTR:NM_000371:exon3:c.T210A:p.S70R	18q12.1	.	rs121918076	0.009	D	0.946	P	0.667	P	0.002	N	1.000	N	1.87	L	-3.72	D	-1.91	N	0.889	4.615	24.5	0.995	0.114	N	0.158	D	0.777	D	0.554	0	-1.24	-1.070	-0.416	0.545	0.805	0.987	Deleterious
1711	18	31595157	A	G	Pathogenic/Likely pathogenic	TTR	.	.	.	.	.	.	.	.	.	.	18	31595157	31595157	A	G	exonic	TTR	.	nonsynonymous SNV	TTR:NM_000371:exon3:c.A238G:p.T80A	18q12.1	.	rs121918070	0.062	T	0.148	B	0.061	B	0.000	D	1	A	1.76	L	-3.8	D	-2.83	D	0.898	2.355	18.53	0.984	0.698	D	0.687	D	0.797	D	0.554	0	5.54	1.062	1.088	0.973	0.424	15.632	Deleterious
1712	18	31598655	G	A	Pathogenic	TTR	.	.	.	.	.	.	.	.	.	.	18	31598655	31598655	G	A	exonic	TTR	.	nonsynonymous SNV	TTR:NM_000371:exon4:c.G424A:p.V142I	18q12.1	0.0059	rs76992529	0.023	D	1.0	D	0.99	D	0.000	N	1.000	A	2.93	M	-3.78	D	-0.48	N	0.591	2.984	22.2	0.998	0.916	D	0.758	D	0.863	D	0.487	0	4.31	0.917	-0.273	0.740	0.003	12.758	Deleterious
1713	18	33743197	C	T	Pathogenic/Likely pathogenic	ASXL3	.	.	.	.	.	.	.	.	.	.	18	33743197	33743197	C	T	exonic	ASXL3	.	stopgain	ASXL3:NM_030632:exon12:c.C3349T:p.R1117X	18q12.1	.	rs868044680	.	.	.	.	.	.	0.057	N	1	D	.	.	.	.	.	.	.	11.366	37	0.998	0.573	D	.	.	.	.	0.549	0	1.52	-0.662	0.018	0.933	0.985	15.691	Deleterious (FATHMM)
1714	18	44951952	T	C	Pathogenic	SETBP1	.	.	.	.	.	.	.	.	.	.	18	44951952	44951952	T	C	exonic	SETBP1	.	nonsynonymous SNV	SETBP1:NM_015559:exon4:c.T2612C:p.I871T	18q12.3	.	rs267607038	0.0	D	1.0	D	0.997	D	0.000	D	1.000	D	0.975	L	-2.71	D	-4.75	D	0.981	4.522	24.3	0.997	0.987	D	0.703	D	0.772	D	0.554	0	6.17	0.991	1.061	0.998	0.988	16.822	Deleterious
1715	18	46529227	C	T	Pathogenic/Likely pathogenic	LOXHD1	.	.	.	.	.	.	.	.	.	.	18	46529227	46529227	C	T	exonic	LOXHD1	.	synonymous SNV	LOXHD1:NM_001308013:exon9:c.C859A:p.R287R,LOXHD1:NM_001145472:exon11:c.C1147A:p.R383R,LOXHD1:NM_144612:exon29:c.C4480A:p.R1494R	18q21.1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
1716	18	51065548	C	T	Pathogenic	SMAD4	.	.	.	.	.	.	.	.	.	.	18	51065548	51065548	C	T	exonic	SMAD4	.	nonsynonymous SNV	SMAD4:NM_005359:exon9:c.C1081T:p.R361C	18q21.2	.	rs80338963	0.0	D	1.0	D	1.0	D	0.000	D	1	A	3.485	M	-4.76	D	-7.82	D	0.997	7.642	35	0.999	0.957	D	1.086	D	0.975	D	0.707	0	5.86	0.871	0.852	1.000	1.000	18.965	Deleterious
1717	18	55228993	G	A	Pathogenic	TCF4	.	.	.	.	.	.	.	.	.	.	18	55228993	55228993	G	A	exonic	TCF4	.	nonsynonymous SNV	TCF4:NM_001243234:exon11:c.G1253T:p.R418L,TCF4:NM_001243235:exon11:c.G1241T:p.R414L,TCF4:NM_001243236:exon11:c.G1241T:p.R414L,TCF4:NM_001243232:exon14:c.G1520T:p.R507L,TCF4:NM_001243233:exon14:c.G1331T:p.R444L,TCF4:NM_001306208:exon14:c.G1508T:p.R503L,TCF4:NM_001243231:exon16:c.G1595T:p.R532L,TCF4:NM_001243227:exon17:c.G1661T:p.R554L,TCF4:NM_001243230:exon17:c.G1712T:p.R571L,TCF4:NM_001306207:exon17:c.G1649T:p.R550L,TCF4:NM_001083962:exon18:c.G1733T:p.R578L,TCF4:NM_001243228:exon18:c.G1751T:p.R584L,TCF4:NM_003199:exon18:c.G1721T:p.R574L,TCF4:NM_001243226:exon19:c.G2039T:p.R680L	18q21.2	.	.	0.001	D	1.0	D	0.998	D	0.000	D	1	D	3.375	M	-5.35	D	-6.53	D	0.991	8.349	35	0.999	0.974	D	1.069	D	0.982	D	0.672	0	5.89	0.871	0.932	0.999	0.976	19.028	Deleterious
1718	18	55254694	C	T	Pathogenic	TCF4	.	.	.	.	.	.	.	.	.	.	18	55254694	55254694	C	T	exonic	TCF4	.	synonymous SNV	TCF4:NM_001243234:exon8:c.C673A:p.R225R,TCF4:NM_001243235:exon8:c.C673A:p.R225R,TCF4:NM_001243236:exon8:c.C673A:p.R225R,TCF4:NM_001243232:exon11:c.C940A:p.R314R,TCF4:NM_001243233:exon11:c.C763A:p.R255R,TCF4:NM_001306208:exon11:c.C940A:p.R314R,TCF4:NM_001243231:exon13:c.C1027A:p.R343R,TCF4:NM_001243227:exon14:c.C1081A:p.R361R,TCF4:NM_001243230:exon14:c.C1144A:p.R382R,TCF4:NM_001306207:exon14:c.C1081A:p.R361R,TCF4:NM_001083962:exon15:c.C1153A:p.R385R,TCF4:NM_001243228:exon15:c.C1171A:p.R391R,TCF4:NM_003199:exon15:c.C1153A:p.R385R,TCF4:NM_001243226:exon16:c.C1459A:p.R487R	18q21.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
1719	19	1220488	G	A	Pathogenic/Likely pathogenic	STK11	.	.	.	.	.	.	.	.	.	.	19	1220488	1220488	G	A	exonic	STK11	.	nonsynonymous SNV	STK11:NM_000455:exon4:c.G580A:p.D194N	19p13.3	.	rs121913315	0.0	D	1.0	D	1.0	D	0.000	D	1	D	4.165	H	-3.14	D	-5.0	D	0.387	6.365	29.4	0.999	0.973	D	1.085	D	0.929	D	0.713	0	5.56	0.917	1.048	0.948	0.983	18.579	Deleterious
1720	19	1221996	C	T	Pathogenic	STK11	.	.	.	.	.	.	.	.	.	.	19	1221996	1221996	C	T	exonic	STK11	.	nonsynonymous SNV	STK11:NM_000455:exon7:c.C910T:p.R304W	19p13.3	.	rs786201090	0.001	D	1.0	D	0.996	D	0.000	D	1	D	1.6	L	-1.67	D	-5.59	D	0.922	7.381	34	0.999	0.832	D	0.107	D	0.596	D	0.713	0	-2.25	-0.639	-0.131	0.141	0.988	14.716	Deleterious
1721	19	1398964	G	A	Pathogenic	GAMT	.	.	.	.	.	.	.	.	.	.	19	1398964	1398964	G	A	exonic	GAMT	.	nonsynonymous SNV	GAMT:NM_000156:exon5:c.G522T:p.W174C,GAMT:NM_138924:exon5:c.G522T:p.W174C	19p13.3	.	.	0.011	D	1.0	D	0.99	D	0.000	D	1	D	2.19	M	-2.48	D	-3.62	D	0.877	7.140	34	0.994	0.980	D	0.581	D	0.776	D	0.635	0	3.96	0.871	0.783	1.000	1.000	13.56	Deleterious
1722	19	1399793	G	A	Pathogenic	GAMT	.	.	.	.	.	.	.	.	.	.	19	1399793	1399793	G	A	exonic	GAMT	.	nonsynonymous SNV	GAMT:NM_000156:exon2:c.G327T:p.K109N,GAMT:NM_138924:exon2:c.G327T:p.K109N	19p13.3	.	.	0.306	T	0.3	B	0.14	B	0.000	D	1	D	0.335	N	-2.16	D	-1.8	N	0.157	2.651	20.5	0.992	0.981	D	-0.400	T	0.398	T	0.706	0	4.18	0.871	0.859	0.807	0.089	14.032	Tolerated
1723	19	4101105	G	A	Pathogenic/Likely pathogenic	MAP2K2	.	.	.	.	.	.	.	.	.	.	19	4101105	4101105	G	A	exonic	MAP2K2	.	stopgain	MAP2K2:NM_030662:exon6:c.G619T:p.E207X	19p13.3	.	.	.	.	.	.	.	.	0.000	D	1	A	.	.	.	.	.	.	.	11.670	38	0.997	0.985	D	.	.	.	.	0.707	0	4.22	0.871	0.848	0.886	0.930	15.189	Deleterious (FATHMM)
1724	19	4110559	T	C	Pathogenic/Likely pathogenic	MAP2K2	.	.	.	.	.	.	.	.	.	.	19	4110559	4110559	T	C	exonic	MAP2K2	.	nonsynonymous SNV	MAP2K2:NM_030662:exon3:c.T400G:p.Y134D	19p13.3	.	.	0.0	D	1.0	D	0.994	D	0.000	D	1	D	3.21	M	-3.22	D	-8.25	D	0.992	6.088	28.2	0.994	0.965	D	1.038	D	0.908	D	0.722	0	5.3	1.003	1.083	0.999	1.000	14.056	Deleterious
1725	19	4117541	A	G	Pathogenic/Likely pathogenic	MAP2K2	.	.	.	.	.	.	.	.	.	.	19	4117541	4117541	A	G	exonic	MAP2K2	.	nonsynonymous SNV	MAP2K2:NM_030662:exon2:c.A181C:p.K61Q	19p13.3	.	.	0.0	D	1.0	D	0.999	D	0.000	D	1	D	2.415	M	-3.21	D	-3.54	D	0.491	5.835	27.2	0.995	0.989	D	0.926	D	0.873	D	0.672	0	4.14	0.938	0.964	0.998	1.000	12.153	Deleterious
1726	19	6495736	G	A	Pathogenic/Likely pathogenic	TUBB4A	.	.	.	.	.	.	.	.	.	.	19	6495736	6495736	G	A	exonic	TUBB4A	.	nonsynonymous SNV	TUBB4A:NM_001289130:exon4:c.G547T:p.V183F,TUBB4A:NM_001289131:exon4:c.G547T:p.V183F,TUBB4A:NM_006087:exon4:c.G763T:p.V255F,TUBB4A:NM_001289123:exon5:c.G916T:p.V306F,TUBB4A:NM_001289127:exon5:c.G898T:p.V300F,TUBB4A:NM_001289129:exon5:c.G763T:p.V255F	19p13.3	.	rs767399782	.	.	1.0	D	0.974	D	0.000	D	1.000	D	4.11	H	-0.89	T	-4.2	D	0.778	6.134	28.4	0.984	0.966	D	0.966	D	0.838	D	0.696	0	3.95	0.871	0.802	0.986	0.909	14.813	Deleterious
1727	19	10155017	A	G	Pathogenic/Likely pathogenic	DNMT1	.	.	.	.	.	.	.	.	.	.	19	10155017	10155017	A	G	exonic	DNMT1	.	nonsynonymous SNV	DNMT1:NM_001379:exon19:c.A1484C:p.Y495S,DNMT1:NM_001130823:exon20:c.A1532C:p.Y511S	19p13.2	.	.	0.0	D	1.0	D	0.997	D	0.000	D	1	D	2.81	M	-3.33	D	-8.11	D	0.981	5.411	26.0	0.991	0.984	D	1.015	D	0.904	D	0.707	0	6.08	0.991	1.061	0.305	0.120	15.626	Deleterious
1728	19	10793799	G	A	Pathogenic/Likely pathogenic	DNM2	.	.	.	.	.	.	.	.	.	.	19	10793799	10793799	G	A	exonic	DNM2	.	nonsynonymous SNV	DNM2:NM_001005360:exon8:c.G1072A:p.G358R,DNM2:NM_001005361:exon8:c.G1072A:p.G358R,DNM2:NM_001005362:exon8:c.G1072A:p.G358R,DNM2:NM_001190716:exon8:c.G1072A:p.G358R,DNM2:NM_004945:exon8:c.G1072A:p.G358R	19p13.2	.	rs267606772	0.001	D	1.0	D	0.992	D	0.000	D	1	D	3.485	M	-1.09	T	-6.46	D	0.981	7.292	34	0.999	0.994	D	0.684	D	0.714	D	0.707	0	4.79	0.917	0.953	0.960	0.993	16.623	Deleterious
1729	19	10793829	G	A	Pathogenic	DNM2	.	.	.	.	.	.	.	.	.	.	19	10793829	10793829	G	A	exonic	DNM2	.	nonsynonymous SNV	DNM2:NM_001005360:exon8:c.G1102A:p.E368K,DNM2:NM_001005361:exon8:c.G1102A:p.E368K,DNM2:NM_001005362:exon8:c.G1102A:p.E368K,DNM2:NM_001190716:exon8:c.G1102A:p.E368K,DNM2:NM_004945:exon8:c.G1102A:p.E368K	19p13.2	.	rs121909092	0.002	D	0.998	D	0.889	P	0.000	D	1	A	3.055	M	-0.85	T	-3.63	D	0.976	7.358	34	0.999	0.995	D	0.451	D	0.619	D	0.707	0	4.93	0.917	0.953	0.978	0.989	16.946	Deleterious
1730	19	10798543	C	T	Pathogenic	DNM2	.	.	.	.	.	.	.	.	.	.	19	10798543	10798543	C	T	exonic	DNM2	.	nonsynonymous SNV	DNM2:NM_001005360:exon11:c.C1393T:p.R465W,DNM2:NM_001005361:exon11:c.C1393T:p.R465W,DNM2:NM_001005362:exon11:c.C1393T:p.R465W,DNM2:NM_001190716:exon11:c.C1393T:p.R465W,DNM2:NM_004945:exon11:c.C1393T:p.R465W	19p13.2	.	rs121909091	0.0	D	1.0	D	0.999	D	0.000	D	1.000	A	3.875	H	-0.88	T	-7.16	D	0.96	7.553	34	0.999	0.952	D	0.620	D	0.668	D	0.707	0	2.26	-0.662	-0.035	0.994	0.995	10.982	Deleterious
1731	19	10812271	G	A	Pathogenic	DNM2	.	.	.	.	.	.	.	.	.	.	19	10812271	10812271	G	A	exonic	DNM2	.	nonsynonymous SNV	DNM2:NM_001005362:exon14:c.G1553A:p.R518H,DNM2:NM_004945:exon14:c.G1553A:p.R518H,DNM2:NM_001005360:exon15:c.G1565A:p.R522H,DNM2:NM_001005361:exon15:c.G1565A:p.R522H,DNM2:NM_001190716:exon15:c.G1565A:p.R522H	19p13.2	.	rs587783595	0.001	D	1.0	D	0.994	D	0.000	D	1	D	3.335	M	-0.99	T	-4.39	D	0.914	7.561	34	0.999	0.975	D	0.561	D	0.673	D	0.722	0	5.26	0.917	1.048	0.999	0.999	17.663	Deleterious
1732	19	10823886	C	G	Pathogenic/Likely pathogenic	DNM2	.	.	.	.	.	.	.	.	.	.	19	10823886	10823886	C	G	exonic	DNM2	.	nonsynonymous SNV	DNM2:NM_001005362:exon16:c.C1868G:p.P623R,DNM2:NM_004945:exon16:c.C1868G:p.P623R,DNM2:NM_001005360:exon17:c.C1880G:p.P627R,DNM2:NM_001005361:exon17:c.C1880G:p.P627R,DNM2:NM_001190716:exon17:c.C1880G:p.P627R	19p13.2	.	rs587783598	0.004	D	0.998	D	0.982	D	0.000	D	1	D	3.165	M	-3.46	D	-7.72	D	0.948	5.724	26.9	0.997	0.988	D	1.077	D	0.926	D	0.719	0	4.92	0.871	0.774	0.990	0.953	16.912	Deleterious
1733	19	11089560	G	A	Pathogenic	LDLR	.	.	.	.	.	.	.	.	.	.	19	11089560	11089560	G	A	exonic	LDLR	.	stopgain	LDLR:NM_000527:exon1:c.G12A:p.W4X,LDLR:NM_001195798:exon1:c.G12A:p.W4X,LDLR:NM_001195799:exon1:c.G12A:p.W4X,LDLR:NM_001195800:exon1:c.G12A:p.W4X,LDLR:NM_001195803:exon1:c.G12A:p.W4X	19p13.2	.	rs756039188	.	.	.	.	.	.	0.054	U	1	A	.	.	.	.	.	.	.	5.110	25.3	0.933	0.906	D	.	.	.	.	0.442	0	-2.02	0.630	-0.943	0.002	0.000	6.549	Deleterious (FATHMM)
1734	19	11100236	C	G	Pathogenic/Likely pathogenic	LDLR	.	.	.	.	.	.	.	.	.	.	19	11100236	11100236	C	G	exonic	LDLR	.	nonsynonymous SNV	LDLR:NM_000527:exon2:c.C81G:p.C27W,LDLR:NM_001195798:exon2:c.C81G:p.C27W,LDLR:NM_001195799:exon2:c.C81G:p.C27W,LDLR:NM_001195800:exon2:c.C81G:p.C27W,LDLR:NM_001195803:exon2:c.C81G:p.C27W	19p13.2	.	rs2228671	0.001	D	1.0	D	1.0	D	0.000	D	1	D	4.295	H	-5.89	D	-8.36	D	0.915	4.854	24.9	0.985	0.372	N	1.103	D	0.987	D	0.646	0	-1.69	-2.004	-0.641	0.018	0.010	12.726	Deleterious
675	8	89947835	A	T	Pathogenic	NBN	.	.	.	.	.	.	.	.	.	.	8	89947835	89947835	A	T	exonic	NBN	.	synonymous SNV	NBN:NM_002485:exon12:c.A1903A:p.K635K,NBN:NM_001024688:exon13:c.A1657A:p.K553K	8q21.3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
676	8	89953342	C	T	Pathogenic	NBN	.	.	.	.	.	.	.	.	.	.	8	89953342	89953342	C	T	exonic	NBN	.	nonsynonymous SNV	NBN:NM_002485:exon11:c.C1747A:p.Q583K,NBN:NM_001024688:exon12:c.C1501A:p.Q501K	8q21.3	.	.	0.033	D	0.981	D	0.651	P	0.929	N	1	N	0.805	L	2.06	T	-1.0	N	0.088	1.408	12.83	0.976	0.236	N	-0.956	T	0.180	T	0.732	0	3.45	0.917	1.048	0.163	0.992	8.264	Tolerated
677	8	93765617	A	T	Pathogenic	TMEM67	.	.	.	.	.	.	.	.	.	.	8	93765617	93765617	A	T	exonic	TMEM67	.	stopgain	TMEM67:NM_153704:exon6:c.A622T:p.R208X,TMEM67:NM_001142301:exon7:c.A379T:p.R127X	8q22.1	7.7e-05	rs137853108	.	.	.	.	.	.	0.668	N	1	A	.	.	.	.	.	.	.	6.882	33	0.968	0.037	N	.	.	.	.	0.615	0	-3.99	-1.071	-0.087	0.193	0.925	8.969	Deleterious (DANN)
678	8	93780603	A	G	Pathogenic/Likely pathogenic	TMEM67	.	.	.	.	.	.	.	.	.	.	8	93780603	93780603	A	G	exonic	TMEM67	.	nonsynonymous SNV	TMEM67:NM_153704:exon8:c.A725G:p.N242S,TMEM67:NM_001142301:exon9:c.A482G:p.N161S	8q22.1	.	rs775883520	0.009	D	1.0	D	0.997	D	0.000	D	1	D	1.805	L	-4.25	D	-3.65	D	0.274	5.451	26.1	0.999	0.998	D	1.073	D	0.932	D	0.651	0	5.84	1.062	1.088	0.496	0.940	16.221	Deleterious
679	8	93781725	T	C	Pathogenic/Likely pathogenic	TMEM67	.	.	.	.	.	.	.	.	.	.	8	93781725	93781725	T	C	exonic	TMEM67	.	nonsynonymous SNV	TMEM67:NM_153704:exon10:c.T1046C:p.L349S,TMEM67:NM_001142301:exon11:c.T803C:p.L268S	8q22.1	.	rs386834180	0.004	D	0.973	D	0.9	P	0.005	N	1.000	D	1.49	L	-4.66	D	-2.51	D	0.873	6.268	29.0	0.999	0.989	D	1.063	D	0.926	D	0.651	0	5.73	0.991	0.964	0.996	0.999	14.604	Deleterious
680	8	93787842	A	G	Pathogenic/Likely pathogenic	TMEM67	.	.	.	.	.	.	.	.	.	.	8	93787842	93787842	A	G	splicing	TMEM67	NM_001142301:exon15:c.1170-2A>G,NM_153704:exon14:c.1413-2A>G	.	.	8q22.1	.	rs786205608	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	3.623	23.2	0.990	0.992	D	.	.	.	.	0.106	0	5.59	1.062	1.088	0.946	0.954	15.439	Deleterious (FATHMM)
681	8	93795970	T	C	Pathogenic	TMEM67	.	.	.	.	.	.	.	.	.	.	8	93795970	93795970	T	C	exonic	TMEM67	.	nonsynonymous SNV	TMEM67:NM_153704:exon18:c.T1843C:p.C615R,TMEM67:NM_001142301:exon19:c.T1600C:p.C534R	8q22.1	.	rs201893408	0.008	D	0.99	D	0.848	P	0.000	D	1	A	1.61	L	-4.15	D	-5.04	D	0.973	6.182	28.6	0.997	0.985	D	1.026	D	0.893	D	0.651	0	5.28	0.991	0.993	0.997	1.000	15.504	Deleterious
682	8	99384272	G	A	Pathogenic/Likely pathogenic	VPS13B	.	.	.	.	.	.	.	.	.	.	8	99384272	99384272	G	A	exonic	VPS13B	.	stopgain	VPS13B:NM_017890:exon20:c.G2889A:p.W963X,VPS13B:NM_152564:exon20:c.G2889A:p.W963X	8q22.2	.	rs386834078	.	.	.	.	.	.	0.000	D	1	A	.	.	.	.	.	.	.	12.691	40	0.994	0.985	D	.	.	.	.	0.615	0	5.37	0.917	0.998	0.813	0.736	19.099	Deleterious (FATHMM)
683	8	132180246	C	T	Pathogenic/Likely pathogenic	KCNQ3	.	.	.	.	.	.	.	.	.	.	8	132180246	132180246	C	T	exonic	KCNQ3	.	nonsynonymous SNV	KCNQ3:NM_001204824:exon4:c.C328A:p.R110S,KCNQ3:NM_004519:exon4:c.C688A:p.R230S	8q24.22	.	.	0.0	D	1.0	D	0.999	D	0.000	D	1.000	D	2.99	M	-5.0	D	-5.6	D	0.992	6.736	32	0.996	0.953	D	1.100	D	0.970	D	0.638	0	5.52	0.917	1.048	0.974	1.000	18.410	Deleterious
684	8	132882609	C	T	Pathogenic	TG	.	.	.	.	.	.	.	.	.	.	8	132882609	132882609	C	T	exonic	TG	.	stopgain	TG:NM_003235:exon7:c.C886T:p.R296X	8q24.22	0.0006	rs121912648	.	.	.	.	.	.	0.000	D	1	A	.	.	.	.	.	.	.	11.570	37	0.998	0.903	D	.	.	.	.	0.487	0	5.63	0.871	0.935	0.994	0.809	14.195	Deleterious (FATHMM)
685	8	144360408	G	A	Pathogenic	SLC52A2	.	.	.	.	.	.	.	.	.	.	8	144360408	144360408	G	A	exonic	SLC52A2	.	nonsynonymous SNV	SLC52A2:NM_001253815:exon3:c.G916A:p.G306R,SLC52A2:NM_001253816:exon3:c.G916A:p.G306R,SLC52A2:NM_024531:exon3:c.G916A:p.G306R	8q24.3	.	rs398124641	0.001	D	1.0	D	0.999	D	0.000	D	1	D	2.995	M	-1.25	T	-7.14	D	0.961	6.119	28.3	0.999	0.977	D	0.533	D	0.672	D	0.672	0	4.69	0.917	0.953	0.998	0.918	15.112	Deleterious
686	8	144360427	T	C	Pathogenic/Likely pathogenic	SLC52A2	.	.	.	.	.	.	.	.	.	.	8	144360427	144360427	T	C	exonic	SLC52A2	.	nonsynonymous SNV	SLC52A2:NM_001253815:exon3:c.T935C:p.L312P,SLC52A2:NM_001253816:exon3:c.T935C:p.L312P,SLC52A2:NM_024531:exon3:c.T935C:p.L312P	8q24.3	.	rs754320812	0.001	D	1.0	D	0.999	D	0.000	D	1	D	2.985	M	-1.41	T	-6.77	D	0.901	5.749	27.0	0.999	0.981	D	0.546	D	0.697	D	0.672	0	4.69	0.991	0.964	0.998	0.788	12.104	Deleterious
687	8	144360935	G	A	Pathogenic/Likely pathogenic	SLC52A2	.	.	.	.	.	.	.	.	.	.	8	144360935	144360935	G	A	exonic	SLC52A2	.	nonsynonymous SNV	SLC52A2:NM_001253815:exon5:c.G1258A:p.A420T,SLC52A2:NM_001253816:exon5:c.G1258A:p.A420T,SLC52A2:NM_024531:exon5:c.G1258A:p.A420T	8q24.3	7.7e-05	rs368924997	0.002	D	0.974	D	0.649	P	0.000	D	1	D	2.28	M	-1.57	D	-3.14	D	0.713	6.037	28.0	0.999	0.980	D	0.454	D	0.774	D	0.707	0	5.25	0.917	1.048	0.455	0.032	16.414	Deleterious
688	9	21970902	G	T	Pathogenic	CDKN2A	.	.	.	.	.	.	.	.	.	.	9	21970902	21970902	G	T	exonic	CDKN2A	.	nonsynonymous SNV	CDKN2A:NM_000077:exon2:c.G457A:p.D153N,CDKN2A:NM_001195132:exon2:c.G457A:p.E153K	9p21.3	.	rs45476696	0.26	T	0.008	B	0.007	B	.	.	1	D	1.24	L	-1.15	T	-0.41	N	.	2.584	20.0	0.993	0.912	D	-0.372	T	0.381	T	0.610	0	3.31	0.827	0.789	0.169	0.174	9.714	Tolerated
689	9	21970982	T	A	Pathogenic, risk factor	CDKN2A	.	.	.	.	.	.	.	.	.	.	9	21970982	21970982	T	A	exonic	CDKN2A	.	synonymous SNV	CDKN2A:NM_000077:exon2:c.T377T:p.V126V,CDKN2A:NM_001195132:exon2:c.T377T:p.V126V	9p21.3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
690	9	21971037	G	T	Pathogenic/Likely pathogenic	CDKN2A	.	.	.	.	.	.	.	.	.	.	9	21971037	21971037	G	T	exonic	CDKN2A	.	nonsynonymous SNV	CDKN2A:NM_000077:exon2:c.G322A:p.D108N,CDKN2A:NM_001195132:exon2:c.G322A:p.D108N,CDKN2A:NM_058195:exon2:c.G365A:p.R122Q	9p21.3	.	rs121913381	0.076	T	1.0	D	0.945	D	0.010	N	1.000	D	0.895	L	-1.22	T	-2.27	N	.	7.298	34	0.998	0.971	D	0.087	D	0.548	D	0.610	0	5.93	0.871	0.935	0.961	0.998	19.122	Deleterious
691	9	21971058	G	T	Pathogenic, risk factor	CDKN2A	.	.	.	.	.	.	.	.	.	.	9	21971058	21971058	G	T	exonic	CDKN2A	.	nonsynonymous SNV	CDKN2A:NM_000077:exon2:c.G301A:p.G101R,CDKN2A:NM_001195132:exon2:c.G301A:p.G101R,CDKN2A:NM_058195:exon2:c.G344A:p.R115Q	9p21.3	.	.	0.102	T	0.998	D	0.652	P	0.620	N	0.999	D	0.975	L	-1.71	D	-3.08	D	.	5.599	26.5	0.997	0.919	D	0.013	D	0.538	D	0.610	0	5.93	0.871	0.935	0.911	0.947	19.103	Deleterious
692	9	21971200	G	C	Pathogenic, risk factor	CDKN2A	.	.	.	.	.	.	.	.	.	.	9	21971200	21971200	G	C	exonic	CDKN2A	.	synonymous SNV	CDKN2A:NM_000077:exon2:c.G159G:p.M53M,CDKN2A:NM_001195132:exon2:c.G159G:p.M53M,CDKN2A:NM_058195:exon2:c.G202G:p.D68D	9p21.3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
693	9	21971209	G	C	Pathogenic	CDKN2A	.	.	.	.	.	.	.	.	.	.	9	21971209	21971209	G	C	splicing	CDKN2A	NM_000077:exon2:c.151-1C>G,NM_058195:exon2:c.194-1C>G,NM_058197:exon2:c.425-1C>G,NM_001195132:exon2:c.151-1C>G	.	.	9p21.3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.
694	9	21974680	C	T	Pathogenic	CDKN2A	.	.	.	.	.	.	.	.	.	.	9	21974680	21974680	C	T	exonic	CDKN2A	.	nonsynonymous SNV	CDKN2A:NM_000077:exon1:c.C148A:p.Q50K,CDKN2A:NM_001195132:exon1:c.C148A:p.Q50K,CDKN2A:NM_058197:exon1:c.C148A:p.Q50K	9p21.3	.	.	0.002	D	1.0	D	0.998	D	.	.	1	D	1.735	L	-0.07	T	-3.46	D	0.948	5.975	27.7	0.987	0.963	D	-0.038	T	0.561	D	0.658	0	4.89	0.917	1.048	0.071	0.854	17.323	Deleterious
695	9	21974757	G	C	Pathogenic, risk factor	CDKN2A	.	.	.	.	.	.	.	.	.	.	9	21974757	21974757	G	C	exonic	CDKN2A	.	synonymous SNV	CDKN2A:NM_000077:exon1:c.G71G:p.R24R,CDKN2A:NM_001195132:exon1:c.G71G:p.R24R,CDKN2A:NM_058197:exon1:c.G71G:p.R24R	9p21.3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
696	9	21974861	G	T	Pathogenic	CDKN2A	.	.	.	.	.	.	.	.	.	.	9	21974861	21974861	G	T	UTR5	CDKN2A	NM_000077:c.-34C>A,NM_001195132:c.-34C>A	.	.	9p21.3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.
697	9	32974495	G	A	Pathogenic	APTX	.	.	.	.	.	.	.	.	.	.	9	32974495	32974495	G	A	exonic	APTX	.	nonsynonymous SNV	APTX:NM_001195250:exon6:c.G717T:p.W239C,APTX:NM_001195254:exon6:c.G675T:p.W225C,APTX:NM_001195248:exon7:c.G879T:p.W293C,APTX:NM_001195249:exon7:c.G837T:p.W279C,APTX:NM_001195252:exon7:c.G663T:p.W221C,APTX:NM_175069:exon7:c.G879T:p.W293C,APTX:NM_001195251:exon8:c.G837T:p.W279C,APTX:NM_175073:exon8:c.G837T:p.W279C	9p21.1	.	.	0.0	D	1.0	D	1.0	D	0.000	D	1	D	3.19	M	-2.57	D	-12.7	D	0.986	7.491	34	0.992	0.989	D	0.996	D	0.903	D	0.732	0	6.01	0.871	0.935	1.000	1.000	18.015	Deleterious
698	9	34647490	A	G	Pathogenic	GALT	.	.	.	.	.	.	.	.	.	.	9	34647490	34647490	A	G	splicing	GALT	NM_000155:exon3:c.253-2A>G	.	.	9p13.3	.	rs111033661	.	.	.	.	.	.	.	.	1	A	.	.	.	.	.	.	.	4.121	23.8	0.986	0.721	D	.	.	.	.	0.493	0	5.15	1.062	1.199	0.985	0.999	9.197	Deleterious (FATHMM)
699	9	34647858	C	T	Pathogenic	GALT	.	.	.	.	.	.	.	.	.	.	9	34647858	34647858	C	T	exonic	GALT	.	nonsynonymous SNV	GALT:NM_001258332:exon3:c.C77T:p.S26L,GALT:NM_000155:exon5:c.C404T:p.S135L	9p13.3	0.0008	rs111033690	0.003	D	1.0	D	0.995	D	0.001	U	1	D	2.175	M	-5.77	D	-4.43	D	0.908	7.145	34	0.999	0.962	D	0.904	D	0.965	D	0.660	0	5.3	0.871	0.935	0.997	1.000	16.098	Deleterious
700	9	34647879	T	A	Pathogenic	GALT	.	.	.	.	.	.	.	.	.	.	9	34647879	34647879	T	A	exonic	GALT	.	nonsynonymous SNV	GALT:NM_001258332:exon3:c.T98A:p.M33K,GALT:NM_000155:exon5:c.T425A:p.M142K	9p13.3	.	rs111033695	0.0	D	0.999	D	0.995	D	0.000	U	1	D	4.055	H	-6.04	D	-5.24	D	0.984	4.242	23.9	0.985	0.964	D	1.003	D	0.988	D	0.660	0	5.3	0.991	1.061	0.999	0.998	12.977	Deleterious
701	9	34648170	A	G	Pathogenic	GALT	.	.	.	.	.	.	.	.	.	.	9	34648170	34648170	A	G	exonic	GALT	.	nonsynonymous SNV	GALT:NM_001258332:exon4:c.A236G:p.Q79R,GALT:NM_000155:exon6:c.A563G:p.Q188R	9p13.3	0.0021	rs75391579	0.001	D	1.0	D	1.0	D	0.000	U	1	A	4.215	H	-8.53	D	-3.27	D	0.99	5.090	25.3	0.998	0.984	D	0.909	D	0.998	D	0.660	0	4.77	1.062	1.199	0.989	0.997	13.624	Deleterious
702	9	34648353	T	C	Pathogenic	GALT	.	.	.	.	.	.	.	.	.	.	9	34648353	34648353	T	C	exonic	GALT	.	nonsynonymous SNV	GALT:NM_001258332:exon5:c.T257C:p.L86P,GALT:NM_000155:exon7:c.T584C:p.L195P	9p13.3	.	rs111033728	0.094	T	0.847	P	0.468	P	0.002	U	1	A	3.795	H	-5.98	D	-5.23	D	0.983	5.450	26.1	0.994	0.996	D	1.146	D	0.976	D	0.737	0	4.78	0.991	1.061	0.997	1.000	11.802	Deleterious
703	9	34648379	C	T	Pathogenic/Likely pathogenic	GALT	.	.	.	.	.	.	.	.	.	.	9	34648379	34648379	C	T	exonic	GALT	.	stopgain	GALT:NM_001258332:exon5:c.C283T:p.R95X,GALT:NM_000155:exon7:c.C610T:p.R204X	9p13.3	.	rs111033737	.	.	.	.	.	.	0.000	U	1	A	.	.	.	.	.	.	.	8.860	35	0.993	0.977	D	.	.	.	.	0.737	0	0.816	0.871	0.048	0.996	0.999	8.131	Deleterious (FATHMM)
704	9	34648395	A	G	Pathogenic	GALT	.	.	.	.	.	.	.	.	.	.	9	34648395	34648395	A	G	exonic	GALT	.	nonsynonymous SNV	GALT:NM_001258332:exon5:c.A299G:p.Y100C,GALT:NM_000155:exon7:c.A626G:p.Y209C	9p13.3	.	rs111033744	0.013	D	1.0	D	0.997	D	0.022	U	0.991	D	3.565	H	-5.98	D	-6.87	D	0.927	3.644	23.2	0.995	0.984	D	1.049	D	0.991	D	0.737	0	3.78	1.062	1.199	0.959	0.986	7.782	Deleterious
705	9	34648403	C	T	Pathogenic/Likely pathogenic	GALT	.	.	.	.	.	.	.	.	.	.	9	34648403	34648403	C	T	exonic	GALT	.	stopgain	GALT:NM_001258332:exon5:c.C307T:p.Q103X,GALT:NM_000155:exon7:c.C634T:p.Q212X	9p13.3	.	rs111033746	.	.	.	.	.	.	0.017	U	1	A	.	.	.	.	.	.	.	8.258	35	0.994	0.821	D	.	.	.	.	0.737	0	3.7	0.871	0.935	0.753	0.994	7.696	Deleterious (FATHMM)
706	9	34648765	C	T	Pathogenic/Likely pathogenic	GALT	.	.	.	.	.	.	.	.	.	.	9	34648765	34648765	C	T	exonic	GALT	.	nonsynonymous SNV	GALT:NM_001258332:exon6:c.C364T:p.R122C,GALT:NM_000155:exon8:c.C691T:p.R231C	9p13.3	.	rs111033749	0.0	D	1.0	D	1.0	D	0.000	U	1	A	4.21	H	-5.7	D	-7.67	D	0.989	7.742	35	0.999	0.981	D	1.002	D	0.989	D	0.719	0	5.78	0.871	0.935	0.976	0.988	16.745	Deleterious
707	9	34648849	C	T	Pathogenic/Likely pathogenic	GALT	.	.	.	.	.	.	.	.	.	.	9	34648849	34648849	C	T	exonic	GALT	.	nonsynonymous SNV	GALT:NM_001258332:exon6:c.C448T:p.R150W,GALT:NM_000155:exon8:c.C775T:p.R259W	9p13.3	.	rs786204763	0.022	D	1.0	D	1.0	D	0.000	U	1	D	3.91	H	-5.77	D	-5.55	D	0.963	6.962	33	0.999	0.351	N	1.026	D	0.985	D	0.719	0	3.73	-0.444	0.036	0.787	0.997	13.739	Deleterious
708	9	34649032	G	T	Pathogenic	GALT	.	.	.	.	.	.	.	.	.	.	9	34649032	34649032	G	T	exonic	GALT	.	nonsynonymous SNV	GALT:NM_001258332:exon7:c.G528T:p.K176N,GALT:NM_000155:exon9:c.G855T:p.K285N	9p13.3	0.0004	rs111033773	0.001	D	0.997	D	0.972	D	0.000	U	1	A	3.43	M	-5.86	D	-4.04	D	0.513	5.594	26.5	0.999	0.945	D	1.056	D	0.984	D	0.732	0	4.67	0.069	1.048	0.998	1.000	11.473	Deleterious
709	9	34649452	G	A	Pathogenic/Likely pathogenic	GALT	.	.	.	.	.	.	.	.	.	.	9	34649452	34649452	G	A	exonic	GALT	.	stopgain	GALT:NM_001258332:exon8:c.G620A:p.W207X,GALT:NM_000155:exon10:c.G947A:p.W316X	9p13.3	.	rs111033790	.	.	.	.	.	.	0.000	U	1	A	.	.	.	.	.	.	.	12.573	39	0.995	0.994	D	.	.	.	.	0.707	0	5.3	0.917	1.048	0.951	0.991	17.533	Deleterious (FATHMM)
710	9	34649502	C	T	Pathogenic/Likely pathogenic	GALT	.	.	.	.	.	.	.	.	.	.	9	34649502	34649502	C	T	exonic	GALT	.	nonsynonymous SNV	GALT:NM_001258332:exon8:c.C670T:p.R224W,GALT:NM_000155:exon10:c.C997T:p.R333W	9p13.3	7.7e-05	rs111033800	0.0	D	1.0	D	0.999	D	0.000	U	1.000	D	3.47	M	-5.87	D	-6.37	D	0.942	7.612	34	0.999	0.969	D	1.031	D	0.986	D	0.707	0	4.29	0.871	0.048	0.981	0.999	13.900	Deleterious
711	9	34649535	C	A	Pathogenic	GALT	.	.	.	.	.	.	.	.	.	.	9	34649535	34649535	C	A	exonic	GALT	.	nonsynonymous SNV	GALT:NM_001258332:exon8:c.C703A:p.Q235K,GALT:NM_000155:exon10:c.C1030A:p.Q344K	9p13.3	7.7e-05	rs111033814	0.002	D	0.866	P	0.507	P	0.000	U	1.000	D	2.645	M	-5.47	D	-2.4	N	0.933	6.242	28.9	0.990	0.983	D	1.118	D	0.957	D	0.707	0	5.21	0.871	0.935	0.997	0.998	17.317	Deleterious
712	9	36217448	G	A	Pathogenic/Likely pathogenic	GNE	.	.	.	.	.	.	.	.	.	.	9	36217448	36217448	G	A	exonic	GNE	.	nonsynonymous SNV	GNE:NM_001190384:exon10:c.G1756T:p.V586L,GNE:NM_001190383:exon11:c.G1864T:p.V622L,GNE:NM_001190388:exon11:c.G2071T:p.V691L,GNE:NM_001128227:exon12:c.G2179T:p.V727L,GNE:NM_005476:exon12:c.G2086T:p.V696L	9p13.3	0.0013	rs121908627	0.235	T	0.841	P	0.785	P	0.000	D	1	D	1.08	L	-4.71	D	-0.37	N	0.746	3.728	23.3	0.993	0.990	D	1.133	D	0.967	D	0.719	0	5.67	0.871	0.935	0.988	0.898	17.256	Deleterious
713	9	36218224	C	T	Pathogenic	GNE	.	.	.	.	.	.	.	.	.	.	9	36218224	36218224	C	T	exonic	GNE	.	nonsynonymous SNV	GNE:NM_001190384:exon9:c.C1562A:p.A521E,GNE:NM_001190383:exon10:c.C1670A:p.A557E,GNE:NM_001190388:exon10:c.C1877A:p.A626E,GNE:NM_001128227:exon11:c.C1985A:p.A662E,GNE:NM_005476:exon11:c.C1892A:p.A631E	9p13.3	.	.	0.001	D	1.0	D	0.999	D	0.000	D	1	D	2.79	M	-5.23	D	-1.07	N	0.925	6.355	29.4	0.995	0.940	D	0.990	D	0.990	D	0.732	0	4.66	0.917	1.048	0.976	0.997	14.016	Deleterious
714	9	36219894	T	C	Pathogenic/Likely pathogenic	GNE	.	.	.	.	.	.	.	.	.	.	9	36219894	36219894	T	C	exonic	GNE	.	nonsynonymous SNV	GNE:NM_001190384:exon8:c.T1430G:p.I477S,GNE:NM_001190383:exon9:c.T1538G:p.I513S,GNE:NM_001190388:exon9:c.T1745G:p.I582S,GNE:NM_001128227:exon10:c.T1853G:p.I618S,GNE:NM_005476:exon10:c.T1760G:p.I587S	9p13.3	.	.	0.001	D	0.324	B	0.216	B	0.000	D	1	D	2.505	M	-4.16	D	-1.4	N	0.907	5.107	25.3	0.991	0.969	D	0.873	D	0.876	D	0.707	0	5.75	1.062	1.140	0.998	0.999	13.996	Deleterious
715	9	36236954	T	C	Pathogenic/Likely pathogenic	GNE	.	.	.	.	.	.	.	.	.	.	9	36236954	36236954	T	C	exonic	GNE	.	nonsynonymous SNV	GNE:NM_001190388:exon3:c.T632G:p.V211G,GNE:NM_001128227:exon4:c.T740G:p.V247G,GNE:NM_001190383:exon4:c.T647G:p.V216G,GNE:NM_005476:exon4:c.T647G:p.V216G	9p13.3	.	.	0.014	D	0.999	D	0.994	D	0.000	D	1	D	2.125	M	-5.72	D	-5.65	D	0.962	5.756	27.0	0.997	0.993	D	1.090	D	0.974	D	0.732	0	6.06	1.062	1.199	0.995	0.999	14.561	Deleterious
716	9	36246120	A	T	Pathogenic	GNE	.	.	.	.	.	.	.	.	.	.	9	36246120	36246120	A	T	exonic	GNE	.	synonymous SNV	GNE:NM_001190384:exon2:c.A350A:p.D117D,GNE:NM_001190388:exon2:c.A512A:p.D171D,GNE:NM_001128227:exon3:c.A620A:p.D207D,GNE:NM_001190383:exon3:c.A527A:p.D176D,GNE:NM_005476:exon3:c.A527A:p.D176D	9p13.3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
717	9	37783993	A	C	Pathogenic/Likely pathogenic	EXOSC3	.	.	.	.	.	.	.	.	.	.	9	37783993	37783993	A	C	exonic	EXOSC3	.	nonsynonymous SNV	EXOSC3:NM_001002269:exon2:c.A395G:p.D132G,EXOSC3:NM_016042:exon2:c.A395G:p.D132G	9p13.2	.	.	0.004	D	0.999	D	0.984	D	0.000	D	1	D	2.87	M	-1.99	D	-6.52	D	0.991	5.965	27.7	0.998	0.968	D	0.703	D	0.767	D	0.660	0	5.34	0.991	1.061	1.000	0.999	13.558	Deleterious
718	9	72694578	C	T	Pathogenic	TMC1	.	.	.	.	.	.	.	.	.	.	9	72694578	72694578	C	T	exonic	TMC1	.	stopgain	TMC1:NM_138691:exon7:c.C100T:p.R34X	9q21.13	.	rs121908073	.	.	.	.	.	.	0.000	D	1	A	.	.	.	.	.	.	.	10.689	36	0.998	0.572	D	.	.	.	.	0.516	0	3.36	-0.022	-0.421	0.990	0.991	10.218	Deleterious (FATHMM)
719	9	95101742	C	T	Pathogenic	FANCC|C9orf3	.	.	.	.	.	.	.	.	.	.	9	95101742	95101742	C	T	exonic	FANCC	.	synonymous SNV	FANCC:NM_000136:exon15:c.C1642A:p.R548R,FANCC:NM_001243743:exon15:c.C1642A:p.R548R	9q22.32	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
720	9	95126582	G	C	Pathogenic/Likely pathogenic	FANCC|C9orf3	.	.	.	.	.	.	.	.	.	.	9	95126582	95126582	G	C	splicing	FANCC	NM_000136:exon9:c.844-1C>G,NM_001243743:exon9:c.844-1C>G,NM_001243744:exon9:c.844-1C>G	.	.	9q22.32	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.
721	9	95135345	G	A	Pathogenic/Likely pathogenic	FANCC|C9orf3	.	.	.	.	.	.	.	.	.	.	9	95135345	95135345	G	A	splicing	FANCC	NM_000136:exon8:c.843+1C>T,NM_001243743:exon8:c.843+1C>T,NM_001243744:exon8:c.843+1C>T	.	.	9q22.32	.	.	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	5.239	25.6	0.994	0.987	D	.	.	.	.	0.078	0	4.98	0.871	0.935	0.958	0.994	17.180	Deleterious (FATHMM)
722	9	95172033	A	T	Pathogenic	FANCC	.	.	.	.	.	.	.	.	.	.	9	95172033	95172033	A	T	intronic	FANCC	.	.	.	9q22.32	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	probably Tolerated (Intron)
723	9	95249255	C	T	Pathogenic/Likely pathogenic	FANCC	.	.	.	.	.	.	.	.	.	.	9	95249255	95249255	C	T	exonic	FANCC	.	nonsynonymous SNV	FANCC:NM_000136:exon2:c.C37A:p.Q13K,FANCC:NM_001243743:exon2:c.C37A:p.Q13K,FANCC:NM_001243744:exon2:c.C37A:p.Q13K	9q22.32	.	.	0.108	T	0.489	P	0.265	B	0.003	N	0.532	D	1.43	L	0.74	T	-1.88	N	0.308	3.880	23.5	0.989	0.641	D	-0.789	T	0.116	T	0.615	0	3.11	-0.044	1.048	0.823	1.000	10.363	Tolerated
724	9	96254864	A	T	Pathogenic	HSD17B3	.	.	.	.	.	.	.	.	.	.	9	96254864	96254864	A	T	intronic	HSD17B3	.	.	.	9q22.32	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	probably Tolerated (Intron)
725	9	99149252	C	T	Pathogenic	TGFBR1	.	.	.	.	.	.	.	.	.	.	9	99149252	99149252	C	T	exonic	TGFBR1	.	nonsynonymous SNV	TGFBR1:NM_001130916:exon8:c.C1228T:p.R410W,TGFBR1:NM_001306210:exon9:c.C1471T:p.R491W,TGFBR1:NM_004612:exon9:c.C1459T:p.R487W	9q22.33	.	rs111426349	0.0	D	1.0	D	1.0	D	0.000	D	1	A	3.53	H	-3.24	D	-7.17	D	0.963	6.960	33	0.999	0.944	D	1.066	D	0.917	D	0.732	0	3.77	0.871	0.935	0.998	1.000	14.202	Deleterious
726	9	99149253	G	A	Pathogenic	TGFBR1	.	.	.	.	.	.	.	.	.	.	9	99149253	99149253	G	A	exonic	TGFBR1	.	nonsynonymous SNV	TGFBR1:NM_001130916:exon8:c.G1229A:p.R410Q,TGFBR1:NM_001306210:exon9:c.G1472A:p.R491Q,TGFBR1:NM_004612:exon9:c.G1460A:p.R487Q	9q22.33	.	rs113605875	0.0	D	1.0	D	0.999	D	0.000	D	1	D	1.725	L	-3.05	D	-3.6	D	0.946	7.117	34	1.000	0.993	D	0.833	D	0.844	D	0.732	0	5.66	0.917	1.048	0.997	0.999	18.885	Deleterious
727	9	101426567	T	A	Pathogenic/Likely pathogenic	ALDOB	.	.	.	.	.	.	.	.	.	.	9	101426567	101426567	T	A	exonic	ALDOB	.	synonymous SNV	ALDOB:NM_000035:exon6:c.T612T:p.Y204Y	9q31.1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
728	9	101427498	C	A	Pathogenic	ALDOB	.	.	.	.	.	.	.	.	.	.	9	101427498	101427498	C	A	exonic	ALDOB	.	nonsynonymous SNV	ALDOB:NM_000035:exon5:c.C524T:p.A175V	9q31.1	.	.	0.0	D	1.0	D	0.988	D	0.000	D	1	D	3.74	H	-3.04	D	-3.81	D	0.884	7.352	34	0.999	0.998	D	1.036	D	0.923	D	0.487	0	6.17	0.917	1.048	0.999	0.998	19.868	Deleterious
729	9	101427574	G	C	Pathogenic	ALDOB	.	.	.	.	.	.	.	.	.	.	9	101427574	101427574	G	C	exonic	ALDOB	.	synonymous SNV	ALDOB:NM_000035:exon5:c.G448G:p.A150A	9q31.1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
730	9	105604256	C	A	Pathogenic/Likely pathogenic	FKTN	.	.	.	.	.	.	.	.	.	.	9	105604256	105604256	C	A	exonic	FKTN	.	stopgain	FKTN:NM_006731:exon5:c.C411A:p.C137X,FKTN:NM_001079802:exon6:c.C411A:p.C137X,FKTN:NM_001198963:exon6:c.C411A:p.C137X	9q31.2	.	rs537001725	.	.	.	.	.	.	0.000	D	1	A	.	.	.	.	.	.	.	10.239	36	0.994	0.831	D	.	.	.	.	0.638	0	3.07	0.871	0.852	0.999	0.999	7.889	Deleterious (FATHMM)
731	9	105604452	C	T	Pathogenic	FKTN	.	.	.	.	.	.	.	.	.	.	9	105604452	105604452	C	T	exonic	FKTN	.	stopgain	FKTN:NM_006731:exon5:c.C607T:p.R203X,FKTN:NM_001079802:exon6:c.C607T:p.R203X,FKTN:NM_001198963:exon6:c.C607T:p.R203X	9q31.2	.	rs746763506	.	.	.	.	.	.	0.003	N	1	A	.	.	.	.	.	.	.	11.496	37	0.997	0.841	D	.	.	.	.	0.638	0	4.45	0.871	0.058	0.997	0.993	14.492	Deleterious (FATHMM)
732	9	108899816	T	C	Pathogenic	IKBKAP	.	.	.	.	.	.	.	.	.	.	9	108899816	108899816	T	C	intronic	IKBKAP	.	.	.	9q31.3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	probably Tolerated (Intron)
733	9	114195977	G	C	Pathogenic	COL27A1	.	.	.	.	.	.	.	.	.	.	9	114195977	114195977	G	C	exonic	COL27A1	.	nonsynonymous SNV	COL27A1:NM_032888:exon7:c.G2089C:p.G697R	9q32	7.7e-05	rs140950220	0.002	D	1.0	D	1.0	D	.	.	1.000	D	3.34	M	-5.77	D	-6.8	D	0.861	5.001	25.1	0.986	0.986	D	1.013	D	0.989	D	0.737	0	5.67	0.917	0.998	0.993	1.000	17.270	Deleterious
734	9	120409290	C	T	Pathogenic/Likely pathogenic	CDK5RAP2	.	.	.	.	.	.	.	.	.	.	9	120409290	120409290	C	T	exonic	CDK5RAP2	.	synonymous SNV	CDK5RAP2:NM_001272039:exon27:c.C3751A:p.R1251R,CDK5RAP2:NM_001011649:exon30:c.C4441A:p.R1481R,CDK5RAP2:NM_018249:exon30:c.C4441A:p.R1481R	9q33.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
735	9	127661140	C	T	Pathogenic	STXBP1	.	.	.	.	.	.	.	.	.	.	9	127661140	127661140	C	T	exonic	STXBP1	.	stopgain	STXBP1:NM_001032221:exon6:c.C364T:p.R122X,STXBP1:NM_003165:exon6:c.C364T:p.R122X	9q34.11	.	rs794727792	.	.	.	.	.	.	0.000	D	1	A	.	.	.	.	.	.	.	10.979	37	0.997	0.916	D	.	.	.	.	0.706	0	4.92	0.871	0.935	0.997	0.969	12.657	Deleterious (FATHMM)
736	9	127668159	C	T	Pathogenic/Likely pathogenic	STXBP1	.	.	.	.	.	.	.	.	.	.	9	127668159	127668159	C	T	exonic	STXBP1	.	nonsynonymous SNV	STXBP1:NM_001032221:exon10:c.C874T:p.R292C,STXBP1:NM_003165:exon10:c.C874T:p.R292C	9q34.11	.	rs786205598	0.0	D	0.997	D	0.901	P	0.000	D	1	D	3.97	H	-1.43	T	-7.58	D	0.944	5.902	27.5	0.999	0.947	D	0.808	D	0.776	D	0.706	0	5.65	0.871	0.887	0.998	0.956	17.564	Deleterious
737	9	127818220	G	A	Pathogenic/Likely pathogenic	ENG|LOC102723566	.	.	.	.	.	.	.	.	.	.	9	127818220	127818220	G	A	exonic	ENG	.	nonsynonymous SNV	ENG:NM_000118:exon12:c.G1586T:p.R529L,ENG:NM_001114753:exon12:c.G1586T:p.R529L,ENG:NM_001278138:exon12:c.G1040T:p.R347L	9q34.11	.	.	0.004	D	1.0	D	0.999	D	0.000	D	0.716	D	0.975	L	-1.6	D	-4.66	D	0.74	6.627	32	0.998	0.682	D	0.234	D	0.551	D	0.722	0	4.24	0.598	0.935	0.504	0.865	9.96	Deleterious
738	9	127829686	G	A	Pathogenic	ENG	.	.	.	.	.	.	.	.	.	.	9	127829686	127829686	G	A	splicing	ENG	NM_000118:exon3:c.360+1C>T,NM_001114753:exon3:c.360+1C>T	.	.	9q34.11	.	.	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	4.367	24.1	0.991	0.941	D	.	.	.	.	0.140	0	4.88	0.824	0.934	0.940	0.900	13.934	Deleterious (FATHMM)
739	9	130470877	G	A	Pathogenic/Likely pathogenic	ASS1	.	.	.	.	.	.	.	.	.	.	9	130470877	130470877	G	A	exonic	ASS1	.	nonsynonymous SNV	ASS1:NM_054012:exon7:c.G539A:p.S180N,ASS1:NM_000050:exon8:c.G539A:p.S180N	9q34.11	.	rs121908638	0.024	D	0.99	D	0.904	P	0.000	U	1.000	A	4.445	H	-6.16	D	-2.6	D	0.54	2.899	21.8	0.985	0.928	D	1.003	D	0.990	D	0.696	0	3.34	0.917	1.048	0.997	0.964	12.221	Deleterious
740	9	130480398	G	A	Pathogenic	ASS1	.	.	.	.	.	.	.	.	.	.	9	130480398	130480398	G	A	exonic	ASS1	.	nonsynonymous SNV	ASS1:NM_054012:exon11:c.G787A:p.V263M,ASS1:NM_000050:exon12:c.G787A:p.V263M	9q34.11	.	rs192838388	0.001	D	1.0	D	0.976	D	0.000	U	1.000	D	3.26	M	-5.87	D	-2.44	N	0.897	6.012	27.9	0.999	0.932	D	1.027	D	0.985	D	0.696	0	4.7	0.917	1.048	0.897	0.878	16.978	Deleterious
741	9	130480405	G	A	Pathogenic	ASS1	.	.	.	.	.	.	.	.	.	.	9	130480405	130480405	G	A	exonic	ASS1	.	nonsynonymous SNV	ASS1:NM_054012:exon11:c.G794A:p.R265H,ASS1:NM_000050:exon12:c.G794A:p.R265H	9q34.11	.	rs398123131	0.021	D	0.964	D	0.339	B	0.000	U	1	D	3.375	M	-5.98	D	-4.76	D	0.944	3.797	23.4	0.999	0.946	D	1.119	D	0.969	D	0.696	0	4.7	0.917	1.048	0.944	0.962	16.978	Deleterious
742	9	130494926	C	T	Pathogenic/Likely pathogenic	ASS1	.	.	.	.	.	.	.	.	.	.	9	130494926	130494926	C	T	exonic	ASS1	.	stopgain	ASS1:NM_054012:exon13:c.C1030T:p.R344X,ASS1:NM_000050:exon14:c.C1030T:p.R344X	9q34.11	.	rs786204537	.	.	.	.	.	.	0.387	U	1	A	.	.	.	.	.	.	.	13.902	43	0.998	0.580	D	.	.	.	.	0.707	0	2.81	-0.064	0.923	0.875	0.996	4.450	Deleterious (FATHMM)
743	9	130494983	C	T	Pathogenic/Likely pathogenic	ASS1	.	.	.	.	.	.	.	.	.	.	9	130494983	130494983	C	T	exonic	ASS1	.	nonsynonymous SNV	ASS1:NM_054012:exon13:c.C1087T:p.R363W,ASS1:NM_000050:exon14:c.C1087T:p.R363W	9q34.11	.	rs121908640	0.0	D	0.976	D	0.536	P	0.000	U	1	A	4.26	H	-6.0	D	-7.77	D	0.98	6.540	31	0.999	0.830	D	1.114	D	0.979	D	0.707	0	3.67	0.871	0.923	0.997	0.967	9.819	Deleterious
744	9	130499545	G	A	Pathogenic	ASS1	.	.	.	.	.	.	.	.	.	.	9	130499545	130499545	G	A	exonic	ASS1	.	nonsynonymous SNV	ASS1:NM_054012:exon14:c.G1168A:p.G390R,ASS1:NM_000050:exon15:c.G1168A:p.G390R	9q34.11	0.0002	rs121908641	0.0	D	1.0	D	1.0	D	0.000	U	1	A	4.06	H	-7.92	D	-7.54	D	0.951	6.937	33	0.999	0.968	D	0.888	D	0.997	D	0.707	0	3.56	0.917	0.953	0.978	0.945	13.035	Deleterious
745	9	130500975	G	C	Pathogenic/Likely pathogenic	ASS1	.	.	.	.	.	.	.	.	.	.	9	130500975	130500975	G	C	splicing	ASS1	NM_000050:exon16:c.1194-1G>C,NM_054012:exon15:c.1194-1G>C	.	.	9q34.11	.	rs727503814	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	4.794	24.7	0.995	0.972	D	.	.	.	.	0.383	0	4.72	0.917	0.902	1.000	1.000	16.616	Deleterious (FATHMM)
746	9	131510287	C	T	Pathogenic	POMT1	.	.	.	.	.	.	.	.	.	.	9	131510287	131510287	C	T	exonic	POMT1	.	stopgain	POMT1:NM_001136114:exon7:c.C376T:p.R126X,POMT1:NM_001077366:exon8:c.C565T:p.R189X,POMT1:NM_001077365:exon9:c.C727T:p.R243X,POMT1:NM_001136113:exon9:c.C727T:p.R243X,POMT1:NM_007171:exon9:c.C793T:p.R265X	9q34.13	.	rs398124247	.	.	.	.	.	.	0.000	D	1	A	.	.	.	.	.	.	.	8.596	35	0.996	0.854	D	.	.	.	.	0.707	0	1.93	-0.662	-0.250	0.343	0.013	14.707	Deleterious (FATHMM)
747	9	131513243	C	T	Pathogenic	POMT1	.	.	.	.	.	.	.	.	.	.	9	131513243	131513243	C	T	exonic	POMT1	.	stopgain	POMT1:NM_001136114:exon10:c.C736T:p.Q246X,POMT1:NM_001077366:exon11:c.C925T:p.Q309X,POMT1:NM_001077365:exon12:c.C1087T:p.Q363X,POMT1:NM_001136113:exon12:c.C1087T:p.Q363X,POMT1:NM_007171:exon12:c.C1153T:p.Q385X	9q34.13	.	rs200056620	.	.	.	.	.	.	0.002	N	1	A	.	.	.	.	.	.	.	10.986	37	0.998	0.936	D	.	.	.	.	0.719	0	4.26	0.871	0.935	0.976	0.900	13.667	Deleterious (FATHMM)
748	9	132903785	C	T	Pathogenic	TSC1	.	.	.	.	.	.	.	.	.	.	9	132903785	132903785	C	T	exonic	TSC1	.	synonymous SNV	TSC1:NM_001162427:exon16:c.C1921A:p.R641R,TSC1:NM_000368:exon17:c.C2074A:p.R692R,TSC1:NM_001162426:exon17:c.C2071A:p.R691R	9q34.13	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
749	9	132906053	C	T	Pathogenic	TSC1	.	.	.	.	.	.	.	.	.	.	9	132906053	132906053	C	T	exonic	TSC1	.	synonymous SNV	TSC1:NM_001162427:exon14:c.C1372A:p.R458R,TSC1:NM_000368:exon15:c.C1525A:p.R509R,TSC1:NM_001162426:exon15:c.C1522A:p.R508R	9q34.13	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
750	9	132911509	C	T	Pathogenic	TSC1	.	.	.	.	.	.	.	.	.	.	9	132911509	132911509	C	T	exonic	TSC1	.	nonsynonymous SNV	TSC1:NM_001162427:exon9:c.C820A:p.Q274K,TSC1:NM_000368:exon10:c.C973A:p.Q325K,TSC1:NM_001162426:exon10:c.C973A:p.Q325K	9q34.13	.	.	0.874	T	0.973	D	0.78	P	0.003	N	1	D	1.95	M	-2.1	D	-0.49	N	0.753	2.309	18.22	0.995	0.991	D	0.443	D	0.708	D	0.707	0	5.79	0.917	1.048	0.986	0.998	17.196	Deleterious
751	9	132921367	C	T	Pathogenic	TSC1	.	.	.	.	.	.	.	.	.	.	9	132921367	132921367	C	T	exonic	TSC1	.	synonymous SNV	TSC1:NM_001162427:exon7:c.C580A:p.R194R,TSC1:NM_000368:exon8:c.C733A:p.R245R,TSC1:NM_001162426:exon8:c.C733A:p.R245R	9q34.13	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
752	9	132921418	C	T	Pathogenic	TSC1	.	.	.	.	.	.	.	.	.	.	9	132921418	132921418	C	T	exonic	TSC1	.	synonymous SNV	TSC1:NM_001162427:exon7:c.C529A:p.R177R,TSC1:NM_000368:exon8:c.C682A:p.R228R,TSC1:NM_001162426:exon8:c.C682A:p.R228R	9q34.13	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
753	9	133636712	T	C	Pathogenic	DBH	.	.	.	.	.	.	.	.	.	.	9	133636712	133636712	T	C	splicing	DBH	NM_000787:exon1:c.339+2T>C	.	.	9q34.2	0.0009	rs74853476	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	3.386	23.0	0.992	0.956	D	.	.	.	.	0.057	0	5.24	0.991	1.058	0.856	0.045	15.138	Deleterious (FATHMM)
754	10	252459	C	T	Pathogenic	ZMYND11	.	.	.	.	.	.	.	.	.	.	10	252459	252459	C	T	exonic	ZMYND11	.	nonsynonymous SNV	ZMYND11:NM_001202465:exon13:c.C1543T:p.R515W,ZMYND11:NM_001202464:exon14:c.C1636T:p.R546W,ZMYND11:NM_001202466:exon14:c.C1633T:p.R545W,ZMYND11:NM_006624:exon15:c.C1798T:p.R600W	10p15.3	.	rs797044854	0.0	D	1.0	D	0.999	D	0.000	D	.	.	2.745	M	.	.	-4.52	D	0.753	7.451	34	0.999	0.969	D	0.127	D	0.455	T	0.706	0	4.32	0.871	0.870	1.000	0.998	13.478	Tolerated
755	10	14945110	C	T	Pathogenic	DCLRE1C	.	.	.	.	.	.	.	.	.	.	10	14945110	14945110	C	T	exonic	DCLRE1C	.	synonymous SNV	DCLRE1C:NM_001033855:exon3:c.C241A:p.R81R	10p13	.	rs121908156	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
756	10	27944296	G	T	Pathogenic	ARMC4	.	.	.	.	.	.	.	.	.	.	10	27944296	27944296	G	T	exonic	ARMC4	.	nonsynonymous SNV	ARMC4:NM_001290021:exon5:c.G244A:p.E82K,ARMC4:NM_001312689:exon7:c.G745A:p.E249K,ARMC4:NM_001290020:exon12:c.G1669A:p.E557K,ARMC4:NM_018076:exon12:c.G1669A:p.E557K	10p12.1	0.0002	rs145742175	0.033	D	1.0	D	0.973	D	0.000	D	1	D	3.015	M	0.78	T	-3.69	D	0.947	6.416	29.7	0.999	0.941	D	-0.423	T	0.356	T	0.638	0	5.34	0.871	0.887	0.991	0.743	19.394	Tolerated
757	10	43113622	G	A	Pathogenic	RET	.	.	.	.	.	.	.	.	.	.	10	43113622	43113622	G	A	exonic	RET	.	nonsynonymous SNV	RET:NM_020630:exon10:c.G1826A:p.C609Y,RET:NM_020975:exon10:c.G1826A:p.C609Y	10q11.21	.	rs77939446	0.0	D	1.0	D	0.999	D	0.000	D	1	A	2.8	M	-2.67	D	-8.69	D	0.996	5.156	25.4	0.994	0.949	D	0.951	D	0.992	D	0.696	0	4.92	0.917	1.048	0.985	0.393	16.727	Deleterious
758	10	43113648	T	C	Pathogenic	RET	.	.	.	.	.	.	.	.	.	.	10	43113648	43113648	T	C	exonic	RET	.	nonsynonymous SNV	RET:NM_020630:exon10:c.T1852C:p.C618R,RET:NM_020975:exon10:c.T1852C:p.C618R	10q11.21	.	rs76262710	0.019	D	0.976	D	0.938	D	0.000	D	1	D	2.78	M	-2.63	D	-5.54	D	0.985	5.325	25.8	0.997	0.971	D	1.088	D	0.977	D	0.696	0	4.92	0.991	1.061	1.000	0.994	13.425	Deleterious
759	10	43113648	T	G	Pathogenic	RET	.	.	.	.	.	.	.	.	.	.	10	43113648	43113648	T	G	exonic	RET	.	nonsynonymous SNV	RET:NM_020630:exon10:c.T1852G:p.C618G,RET:NM_020975:exon10:c.T1852G:p.C618G	10q11.21	.	rs76262710	0.007	D	0.976	D	0.882	P	0.000	D	1	D	2.78	M	-2.61	D	-6.95	D	0.99	5.095	25.3	0.979	0.975	D	1.078	D	0.975	D	0.696	0	4.92	0.991	1.061	1.000	0.994	13.425	Deleterious
760	10	43113649	G	C	Pathogenic	RET	.	.	.	.	.	.	.	.	.	.	10	43113649	43113649	G	C	exonic	RET	.	nonsynonymous SNV	RET:NM_020630:exon10:c.G1853C:p.C618S,RET:NM_020975:exon10:c.G1853C:p.C618S	10q11.21	.	rs79781594	0.028	D	0.976	D	0.882	P	0.000	D	1	A	2.78	M	-2.58	D	-5.7	D	0.983	3.521	23.1	0.994	0.986	D	1.077	D	0.977	D	0.696	0	4.92	0.917	1.048	1.000	0.997	16.727	Deleterious
761	10	43113654	T	C	Pathogenic	RET	.	.	.	.	.	.	.	.	.	.	10	43113654	43113654	T	C	exonic	RET	.	nonsynonymous SNV	RET:NM_020630:exon10:c.T1858C:p.C620R,RET:NM_020975:exon10:c.T1858C:p.C620R	10q11.21	.	rs77316810	0.001	D	1.0	D	0.999	D	0.000	D	1	A	2.78	M	-2.49	D	-5.44	D	0.994	5.330	25.8	0.997	0.951	D	1.092	D	0.977	D	0.696	0	4.92	0.991	1.061	0.999	0.996	13.425	Deleterious
762	10	43113655	G	T	Pathogenic	RET	.	.	.	.	.	.	.	.	.	.	10	43113655	43113655	G	T	exonic	RET	.	nonsynonymous SNV	RET:NM_020630:exon10:c.G1859T:p.C620F,RET:NM_020975:exon10:c.G1859T:p.C620F	10q11.21	.	rs77503355	0.0	D	1.0	D	0.999	D	0.000	D	1	D	2.78	M	-2.48	D	-6.73	D	0.993	5.869	27.4	0.993	0.985	D	1.068	D	0.980	D	0.696	0	4.92	0.917	1.048	0.998	0.995	16.727	Deleterious
763	10	43114500	T	C	Pathogenic	RET	.	.	.	.	.	.	.	.	.	.	10	43114500	43114500	T	C	exonic	RET	.	nonsynonymous SNV	RET:NM_020630:exon11:c.T1900C:p.C634R,RET:NM_020975:exon11:c.T1900C:p.C634R	10q11.21	.	rs75076352	0.002	D	1.0	D	0.999	D	0.000	D	1	D	2.47	M	-1.24	T	-5.8	D	0.986	3.753	23.3	0.997	0.946	D	1.084	D	0.976	D	0.696	0	4.52	0.991	1.061	0.844	0.802	14.041	Deleterious
764	10	43114501	G	A	Pathogenic	RET	.	.	.	.	.	.	.	.	.	.	10	43114501	43114501	G	A	exonic	RET	.	nonsynonymous SNV	RET:NM_020630:exon11:c.G1901A:p.C634Y,RET:NM_020975:exon11:c.G1901A:p.C634Y	10q11.21	.	rs75996173	0.026	D	1.0	D	0.999	D	0.000	D	1	D	2.47	M	-1.27	T	-6.95	D	0.997	3.715	23.3	0.997	0.957	D	1.095	D	0.976	D	0.696	0	3.61	0.917	1.048	0.843	0.822	14.049	Deleterious
765	10	43118458	G	T	Pathogenic	RET	.	.	.	.	.	.	.	.	.	.	10	43118458	43118458	G	T	exonic	RET	.	nonsynonymous SNV	RET:NM_020630:exon13:c.G2370T:p.L790F,RET:NM_020975:exon13:c.G2370T:p.L790F	10q11.21	.	rs75030001	0.003	D	1.0	D	0.992	D	0.000	D	1.000	D	0.95	L	-2.87	D	-3.66	D	0.897	5.093	25.3	0.999	0.696	D	0.147	D	0.671	D	0.706	0	0.958	-0.044	1.048	0.969	0.996	4.777	Deleterious
766	10	43119548	G	A	Pathogenic	RET	.	.	.	.	.	.	.	.	.	.	10	43119548	43119548	G	A	exonic	RET	.	nonsynonymous SNV	RET:NM_020630:exon14:c.G2410A:p.V804M,RET:NM_020975:exon14:c.G2410A:p.V804M	10q11.21	7.8e-05	rs79658334	0.028	D	1.0	D	1.0	D	0.000	D	1	D	-1.36	N	-2.2	D	-2.23	N	0.955	5.658	26.7	0.998	0.992	D	0.475	D	0.497	T	0.646	0	5.36	0.917	0.998	0.995	0.995	19.077	Tolerated
767	10	43120144	T	G	Pathogenic	RET	.	.	.	.	.	.	.	.	.	.	10	43120144	43120144	T	G	exonic	RET	.	nonsynonymous SNV	RET:NM_020630:exon15:c.T2671G:p.S891A,RET:NM_020975:exon15:c.T2671G:p.S891A	10q11.21	.	rs75234356	0.11	T	0.998	D	0.998	D	0.000	D	1	A	-0.09	N	-1.64	D	-2.79	D	0.918	5.797	27.1	0.997	0.968	D	0.145	D	0.492	T	0.696	0	5.58	0.991	1.061	0.979	0.976	15.752	Tolerated
768	10	43121968	T	C	Pathogenic	RET	.	.	.	.	.	.	.	.	.	.	10	43121968	43121968	T	C	exonic	RET	.	nonsynonymous SNV	RET:NM_020630:exon16:c.T2753C:p.M918T,RET:NM_020975:exon16:c.T2753C:p.M918T	10q11.21	.	rs74799832	0.0	D	1.0	D	1.0	D	0.000	D	1	A	1.63	L	-2.68	D	-5.47	D	0.981	6.098	28.2	0.993	0.983	D	0.776	D	0.799	D	0.706	0	5.43	0.991	1.061	1.000	1.000	15.777	Deleterious
769	10	49472472	A	G	Pathogenic	ERCC6	.	.	.	.	.	.	.	.	.	.	10	49472472	49472472	A	G	splicing	ERCC6	NM_000124:exon16:c.2830-2T>C	.	.	10q11.23	.	.	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	4.127	23.8	0.993	0.988	D	.	.	.	.	0.099	0	5.46	0.938	1.061	0.813	0.756	15.824	Deleterious (FATHMM)
770	10	49478437	C	T	Pathogenic	ERCC6	.	.	.	.	.	.	.	.	.	.	10	49478437	49478437	C	T	exonic	ERCC6	.	synonymous SNV	ERCC6:NM_000124:exon11:c.C2203A:p.R735R	10q11.23	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
771	10	49482689	C	T	Pathogenic	ERCC6	.	.	.	.	.	.	.	.	.	.	10	49482689	49482689	C	T	exonic	ERCC6	.	nonsynonymous SNV	ERCC6:NM_000124:exon10:c.C2167A:p.Q723K	10q11.23	.	.	0.0	D	0.972	D	0.794	P	.	.	1	D	2.475	M	-3.19	D	-3.63	D	0.773	4.799	24.8	0.993	0.996	D	0.916	D	0.871	D	0.707	0	5.81	0.917	1.048	1.000	0.986	18.243	Deleterious
772	10	49505883	G	T	Pathogenic	ERCC6	.	.	.	.	.	.	.	.	.	.	10	49505883	49505883	G	T	splicing	ERCC6	NM_000124:exon6:c.1526+1C>A	.	.	10q11.23	.	.	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	5.561	26.4	0.995	0.996	D	.	.	.	.	0.162	0	6.07	0.871	0.935	0.992	0.996	18.840	Deleterious (FATHMM)
773	10	49530797	C	T	Pathogenic/Likely pathogenic	ERCC6|ERCC6-PGBD3	.	.	.	.	.	.	.	.	.	.	10	49530797	49530797	C	T	exonic	ERCC6,ERCC6-PGBD3	.	nonsynonymous SNV	ERCC6:NM_000124:exon3:c.C466A:p.Q156K,ERCC6-PGBD3:NM_001277058:exon3:c.C466A:p.Q156K,ERCC6-PGBD3:NM_001277059:exon3:c.C466A:p.Q156K	10q11.23	.	.	0.121	T	0.996	D	0.874	P	.	.	1	D	2.045	M	3.21	T	-1.26	N	0.365	6.179	28.6	0.996	0.997	D	0.110	D	0.642	D	0.732	0	5.31	0.917	1.048	0.994	0.999	18.577	Deleterious
774	10	51467819	G	A	Pathogenic	PRKG1	.	.	.	.	.	.	.	.	.	.	10	51467819	51467819	G	A	exonic	PRKG1	.	nonsynonymous SNV	PRKG1:NM_001098512:exon3:c.G530A:p.R177Q,PRKG1:NM_006258:exon3:c.G575A:p.R192Q	10q21.1	.	rs397515330	0.001	D	1.0	D	0.996	D	0.000	D	1	D	4.64	H	-2.38	D	-3.56	D	0.839	7.926	35	1.000	0.990	D	1.048	D	0.979	D	0.638	0	5.79	0.917	1.048	1.000	0.994	17.517	Deleterious
775	10	53938872	C	T	Pathogenic/Likely pathogenic	PCDH15	.	.	.	.	.	.	.	.	.	.	10	53938872	53938872	C	T	exonic	PCDH15	.	synonymous SNV	PCDH15:NM_001142765:exon23:c.C3103A:p.R1035R,PCDH15:NM_001142767:exon24:c.C3205A:p.R1069R,PCDH15:NM_001142768:exon24:c.C3250A:p.R1084R,PCDH15:NM_001142773:exon24:c.C3250A:p.R1084R,PCDH15:NM_001142764:exon25:c.C3316A:p.R1106R,PCDH15:NM_001142766:exon25:c.C3316A:p.R1106R,PCDH15:NM_033056:exon25:c.C3316A:p.R1106R,PCDH15:NM_001142763:exon26:c.C3331A:p.R1111R	10q21.1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
776	10	54317414	C	T	Pathogenic	PCDH15	.	.	.	.	.	.	.	.	.	.	10	54317414	54317414	C	T	exonic	PCDH15	.	synonymous SNV	PCDH15:NM_001142767:exon7:c.C622A:p.R208R,PCDH15:NM_001142768:exon7:c.C667A:p.R223R,PCDH15:NM_001142773:exon7:c.C667A:p.R223R,PCDH15:NM_001142764:exon8:c.C733A:p.R245R,PCDH15:NM_001142765:exon8:c.C733A:p.R245R,PCDH15:NM_001142766:exon8:c.C733A:p.R245R,PCDH15:NM_033056:exon8:c.C733A:p.R245R,PCDH15:NM_001142763:exon9:c.C748A:p.R250R	10q21.1	.	rs111033260	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
777	10	71779316	G	A	Pathogenic	CDH23	.	.	.	.	.	.	.	.	.	.	10	71779316	71779316	G	A	exonic	CDH23	.	nonsynonymous SNV	CDH23:NM_022124:exon39:c.G5237A:p.R1746Q	10q22.1	0.0002	rs111033270	.	.	0.624	P	0.156	B	0.000	D	0.999	A	1.04	L	.	.	.	.	0.958	5.987	27.8	1.000	0.967	D	-0.992	T	0.075	T	0.497	0	4.88	0.917	1.048	0.998	0.999	11.665	Tolerated
778	10	71791123	G	A	Pathogenic	CDH23	.	.	.	.	.	.	.	.	.	.	10	71791123	71791123	G	A	intronic	CDH23	.	.	.	10q22.1	7.8e-05	rs367928692	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	probably Tolerated (Intron)
779	10	86876019	A	G	Pathogenic/Likely pathogenic	BMPR1A	.	.	.	.	.	.	.	.	.	.	10	86876019	86876019	A	G	exonic	BMPR1A	.	nonsynonymous SNV	BMPR1A:NM_004329:exon3:c.A1G:p.M1V	10q23.2	.	rs786203157	0.0	D	0.0	B	0.0	B	0.000	D	1	D	.	.	-1.54	D	-0.29	N	0.945	1.160	11.53	0.975	0.945	D	-0.393	T	0.390	T	0.732	0	5.3	1.062	1.007	0.990	0.891	13.780	Tolerated
780	10	86917140	C	T	Pathogenic	BMPR1A	.	.	.	.	.	.	.	.	.	.	10	86917140	86917140	C	T	exonic	BMPR1A	.	stopgain	BMPR1A:NM_004329:exon9:c.C682T:p.R228X	10q23.2	.	rs587782682	.	.	.	.	.	.	0.000	D	1	A	.	.	.	.	.	.	.	14.523	46	0.998	0.970	D	.	.	.	.	0.563	0	5.63	0.871	0.935	0.999	1.000	20.040	Deleterious (FATHMM)
781	10	86917275	C	T	Pathogenic	BMPR1A	.	.	.	.	.	.	.	.	.	.	10	86917275	86917275	C	T	exonic	BMPR1A	.	stopgain	BMPR1A:NM_004329:exon9:c.C817T:p.R273X	10q23.2	.	rs587782400	.	.	.	.	.	.	0.000	D	1	A	.	.	.	.	.	.	.	13.054	41	0.998	0.897	D	.	.	.	.	0.563	0	4.85	-0.022	0.020	0.995	0.999	15.136	Deleterious (FATHMM)
782	10	87057692	C	T	Pathogenic	GLUD1	.	.	.	.	.	.	.	.	.	.	10	87057692	87057692	C	T	exonic	GLUD1	.	stopgain	GLUD1:NM_005271:exon11:c.C1493A:p.S498X	10q23.2	.	.	.	.	.	.	.	.	0.000	D	1	A	.	.	.	.	.	.	.	14.834	48	0.997	0.993	D	.	.	.	.	0.707	0	4.98	0.917	0.993	0.993	1.000	18.657	Deleterious (FATHMM)
783	10	87864517	T	A	Pathogenic	PTEN	.	.	.	.	.	.	.	.	.	.	10	87864517	87864517	T	A	exonic	PTEN	.	stopgain	PTEN:NM_000314:exon1:c.T48A:p.Y16X,PTEN:NM_001304717:exon2:c.T567A:p.Y189X	10q23.31	.	rs587782187	.	.	.	.	.	.	0.000	D	1	A	.	.	.	.	.	.	.	7.682	35	0.996	0.652	D	.	.	.	.	0.733	0	0.362	0.011	0.090	0.999	1.000	8.698	Deleterious (FATHMM)
784	10	87864518	C	T	Pathogenic	PTEN	.	.	.	.	.	.	.	.	.	.	10	87864518	87864518	C	T	exonic	PTEN	.	stopgain	PTEN:NM_000314:exon1:c.C49T:p.Q17X,PTEN:NM_001304717:exon2:c.C568T:p.Q190X	10q23.31	.	rs786204910	.	.	.	.	.	.	0.000	D	1	A	.	.	.	.	.	.	.	10.393	36	0.998	0.927	D	.	.	.	.	0.733	0	5.05	0.791	0.855	0.999	1.000	17.161	Deleterious (FATHMM)
785	10	87864540	A	G	Pathogenic	PTEN	.	.	.	.	.	.	.	.	.	.	10	87864540	87864540	A	G	exonic	PTEN	.	nonsynonymous SNV	PTEN:NM_000314:exon1:c.A71G:p.D24G,PTEN:NM_001304717:exon2:c.A590G:p.D197G	10q23.31	.	rs797044910	0.0	D	0.539	P	0.193	B	0.000	D	1	D	3.99	H	-5.18	D	-6.02	D	0.992	5.426	26.1	0.998	0.948	D	1.095	D	0.957	D	0.628	0	5.28	0.960	1.091	1.000	1.000	14.181	Deleterious
786	10	87925512	G	A	Pathogenic	PTEN	.	.	.	.	.	.	.	.	.	.	10	87925512	87925512	G	A	splicing	PTEN	NM_000314:exon3:c.165-1G>A,NM_001304717:exon4:c.684-1G>A	.	.	10q23.31	.	rs786203847	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	5.426	26.1	0.995	0.994	D	.	.	.	.	0.295	0	5.45	0.917	1.048	1.000	1.000	19.279	Deleterious (FATHMM)
787	10	87933147	C	T	Pathogenic	PTEN	.	.	.	.	.	.	.	.	.	.	10	87933147	87933147	C	T	exonic	PTEN	.	stopgain	PTEN:NM_000314:exon5:c.C388T:p.R130X,PTEN:NM_001304717:exon6:c.C907T:p.R303X	10q23.31	.	rs121909224	.	.	.	.	.	.	0.000	D	1	A	.	.	.	.	.	.	.	12.360	39	0.998	0.946	D	.	.	.	.	0.722	0	5.22	0.871	0.852	1.000	1.000	18.778	Deleterious (FATHMM)
788	10	87933148	G	A	Pathogenic	PTEN	.	.	.	.	.	.	.	.	.	.	10	87933148	87933148	G	A	exonic	PTEN	.	nonsynonymous SNV	PTEN:NM_000314:exon5:c.G389A:p.R130Q,PTEN:NM_001304717:exon6:c.G908A:p.R303Q	10q23.31	.	rs121909229	0.0	D	1.0	D	0.998	D	0.000	D	1	A	3.9	H	-4.88	D	-3.86	D	0.984	7.065	33	1.000	0.985	D	1.062	D	0.978	D	0.722	0	5.22	0.917	0.953	0.998	1.000	18.778	Deleterious
789	10	87933165	T	C	Pathogenic	PTEN	.	.	.	.	.	.	.	.	.	.	10	87933165	87933165	T	C	exonic	PTEN	.	nonsynonymous SNV	PTEN:NM_000314:exon5:c.T406C:p.C136R,PTEN:NM_001304717:exon6:c.T925C:p.C309R	10q23.31	.	rs786201044	0.001	D	1.0	D	0.999	D	0.000	D	1	D	3.85	H	-5.11	D	-9.91	D	0.989	5.205	25.5	0.997	0.970	D	1.051	D	0.980	D	0.722	0	5.22	0.991	0.964	0.999	1.000	15.102	Deleterious
790	10	87933166	G	A	Pathogenic	PTEN	.	.	.	.	.	.	.	.	.	.	10	87933166	87933166	G	A	exonic	PTEN	.	nonsynonymous SNV	PTEN:NM_000314:exon5:c.G407A:p.C136Y,PTEN:NM_001304717:exon6:c.G926A:p.C309Y	10q23.31	.	rs786204859	0.008	D	1.0	D	0.999	D	0.000	D	1	D	3.85	H	-5.11	D	-8.88	D	0.987	5.668	26.7	0.998	0.985	D	1.044	D	0.982	D	0.722	0	5.22	0.917	0.953	1.000	1.000	18.778	Deleterious
791	10	87952116	A	G	Pathogenic	PTEN	.	.	.	.	.	.	.	.	.	.	10	87952116	87952116	A	G	splicing	PTEN	NM_000314:exon6:c.493-2A>G,NM_001304717:exon7:c.1012-2A>G	.	.	10q23.31	.	rs587781784	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	4.752	24.7	0.995	0.963	D	.	.	.	.	0.257	0	5.74	1.062	1.140	0.905	0.999	16.045	Deleterious (FATHMM)
792	10	87952136	C	T	Pathogenic	PTEN	.	.	.	.	.	.	.	.	.	.	10	87952136	87952136	C	T	exonic	PTEN	.	stopgain	PTEN:NM_000314:exon6:c.C511T:p.Q171X,PTEN:NM_001304717:exon7:c.C1030T:p.Q344X	10q23.31	.	rs786204864	.	.	.	.	.	.	0.000	D	1	A	.	.	.	.	.	.	.	13.073	41	0.998	0.950	D	.	.	.	.	0.722	0	5.74	0.871	0.892	1.000	1.000	19.931	Deleterious (FATHMM)
793	10	87952142	C	T	Pathogenic/Likely pathogenic	PTEN	.	.	.	.	.	.	.	.	.	.	10	87952142	87952142	C	T	exonic	PTEN	.	nonsynonymous SNV	PTEN:NM_000314:exon6:c.C517T:p.R173C,PTEN:NM_001304717:exon7:c.C1036T:p.R346C	10q23.31	.	rs121913293	0.0	D	1.0	D	0.966	D	0.000	D	1	D	3.8	H	-5.24	D	-7.16	D	0.974	7.686	35	0.999	0.951	D	1.058	D	0.981	D	0.722	0	5.74	0.871	0.892	1.000	1.000	19.931	Deleterious
794	10	87957915	C	T	Pathogenic	PTEN	.	.	.	.	.	.	.	.	.	.	10	87957915	87957915	C	T	exonic	PTEN	.	stopgain	PTEN:NM_000314:exon7:c.C697T:p.R233X,PTEN:NM_001304718:exon7:c.C106T:p.R36X,PTEN:NM_001304717:exon8:c.C1216T:p.R406X	10q23.31	.	rs121909219	.	.	.	.	.	.	0.000	D	1	A	.	.	.	.	.	.	.	11.451	37	0.997	0.815	D	.	.	.	.	0.719	0	0.533	-0.058	0.807	0.993	0.999	14.484	Deleterious (FATHMM)
795	10	87957955	C	T	Pathogenic	PTEN	.	.	.	.	.	.	.	.	.	.	10	87957955	87957955	C	T	exonic	PTEN	.	nonsynonymous SNV	PTEN:NM_000314:exon7:c.C737T:p.P246L,PTEN:NM_001304718:exon7:c.C146T:p.P49L,PTEN:NM_001304717:exon8:c.C1256T:p.P419L	10q23.31	.	rs587782350	0.014	D	0.728	P	0.116	B	0.000	D	1	D	2.19	M	-2.06	D	-5.84	D	0.947	4.127	23.8	0.989	0.975	D	0.024	D	0.511	D	0.719	0	5.15	0.871	0.807	0.997	0.990	18.616	Deleterious
796	10	87960892	A	T	Pathogenic	PTEN	.	.	.	.	.	.	.	.	.	.	10	87960892	87960892	A	T	splicing	PTEN	NM_000314:exon8:c.802-2A>T,NM_001304717:exon9:c.1321-2A>T,NM_001304718:exon8:c.211-2A>T	.	.	10q23.31	.	rs587782455	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	4.206	23.9	0.995	0.997	D	.	.	.	.	0.089	0	5.13	1.062	1.140	0.983	0.986	14.923	Deleterious (FATHMM)
797	10	87960984	C	T	Pathogenic	PTEN	.	.	.	.	.	.	.	.	.	.	10	87960984	87960984	C	T	exonic	PTEN	.	stopgain	PTEN:NM_000314:exon8:c.C892T:p.Q298X,PTEN:NM_001304718:exon8:c.C301T:p.Q101X,PTEN:NM_001304717:exon9:c.C1411T:p.Q471X	10q23.31	.	rs371387815	.	.	.	.	.	.	0.000	D	1	A	.	.	.	.	.	.	.	12.152	38	0.998	0.976	D	.	.	.	.	0.732	0	5.13	0.871	0.892	1.000	1.000	18.563	Deleterious (FATHMM)
798	10	87961056	A	T	Pathogenic	PTEN	.	.	.	.	.	.	.	.	.	.	10	87961056	87961056	A	T	exonic	PTEN	.	stopgain	PTEN:NM_000314:exon8:c.A964T:p.K322X,PTEN:NM_001304718:exon8:c.A373T:p.K125X,PTEN:NM_001304717:exon9:c.A1483T:p.K495X	10q23.31	.	rs786202004	.	.	.	.	.	.	0.000	D	1	A	.	.	.	.	.	.	.	13.466	42	0.996	0.970	D	.	.	.	.	0.707	0	5.37	1.062	1.140	0.991	1.000	15.354	Deleterious (FATHMM)
799	10	87961095	C	T	Pathogenic	PTEN	.	.	.	.	.	.	.	.	.	.	10	87961095	87961095	C	T	exonic	PTEN	.	stopgain	PTEN:NM_000314:exon8:c.C1003T:p.R335X,PTEN:NM_001304718:exon8:c.C412T:p.R138X,PTEN:NM_001304717:exon9:c.C1522T:p.R508X	10q23.31	.	rs121909231	.	.	.	.	.	.	0.000	D	1	A	.	.	.	.	.	.	.	12.828	40	0.998	0.903	D	.	.	.	.	0.707	0	4.39	-0.058	0.892	0.999	1.000	12.825	Deleterious (FATHMM)
800	10	88941309	G	A	Pathogenic	ACTA2	.	.	.	.	.	.	.	.	.	.	10	88941309	88941309	G	A	exonic	ACTA2	.	nonsynonymous SNV	ACTA2:NM_001141945:exon6:c.G536T:p.R179L,ACTA2:NM_001613:exon6:c.G536T:p.R179L	10q23.31	.	.	.	.	0.903	P	0.837	P	0.000	D	1	D	4.455	H	-3.6	D	-5.61	D	0.984	7.913	35	0.997	0.982	D	1.089	D	0.949	D	0.732	0	5.86	0.871	0.935	1.000	0.999	18.742	Deleterious
801	10	88943813	G	A	Pathogenic/Likely pathogenic	ACTA2	.	.	.	.	.	.	.	.	.	.	10	88943813	88943813	G	A	exonic	ACTA2	.	nonsynonymous SNV	ACTA2:NM_001141945:exon4:c.G353T:p.R118L,ACTA2:NM_001613:exon4:c.G353T:p.R118L	10q23.31	.	.	.	.	0.97	D	0.983	D	0.000	D	1	D	4.575	H	-4.23	D	-5.52	D	0.97	8.030	35	0.997	0.986	D	1.059	D	0.975	D	0.707	0	5.86	0.871	0.935	0.999	0.998	18.742	Deleterious
802	10	99832069	C	T	Pathogenic/Likely pathogenic	ABCC2	.	.	.	.	.	.	.	.	.	.	10	99832069	99832069	C	T	exonic	ABCC2	.	stopgain	ABCC2:NM_000392:exon23:c.C3196T:p.R1066X	10q24.2	0.0010	rs72558199	.	.	.	.	.	.	0.037	N	1	A	.	.	.	.	.	.	.	12.703	40	0.997	0.158	N	.	.	.	.	0.554	0	4.84	0.868	0.890	0.937	0.804	15.649	Deleterious (DANN)
803	10	110812298	G	A	Pathogenic	RBM20	.	.	.	.	.	.	.	.	.	.	10	110812298	110812298	G	A	exonic	RBM20	.	nonsynonymous SNV	RBM20:NM_001134363:exon9:c.G1901A:p.R634Q	10q25.2	.	rs267607001	0.0	D	1.0	D	0.998	D	0.023	N	1.000	D	1.79	L	-3.31	D	-1.52	N	0.774	5.844	27.3	0.999	0.970	D	0.899	D	0.875	D	0.554	0	5.69	0.917	1.048	0.955	0.227	19.805	Deleterious
804	10	110812303	C	A	Pathogenic/Likely pathogenic	RBM20	.	.	.	.	.	.	.	.	.	.	10	110812303	110812303	C	A	exonic	RBM20	.	nonsynonymous SNV	RBM20:NM_001134363:exon9:c.C1906A:p.R636S	10q25.2	.	rs267607002	0.0	D	1.0	D	0.999	D	0.002	N	1	D	1.79	L	-3.52	D	-3.02	D	0.863	6.219	28.8	0.997	0.955	D	0.894	D	0.891	D	0.554	0	5.69	0.871	0.935	0.992	0.218	19.805	Deleterious
805	10	110812304	G	A	Pathogenic/Likely pathogenic	RBM20	.	.	.	.	.	.	.	.	.	.	10	110812304	110812304	G	A	exonic	RBM20	.	nonsynonymous SNV	RBM20:NM_001134363:exon9:c.G1907A:p.R636H	10q25.2	.	rs267607004	0.0	D	1.0	D	0.999	D	0.002	N	1	D	1.79	L	-3.54	D	-2.8	D	0.797	6.116	28.3	0.999	0.973	D	0.972	D	0.894	D	0.554	0	5.69	0.917	1.048	0.990	0.225	19.805	Deleterious
806	10	110812310	C	T	Pathogenic	RBM20	.	.	.	.	.	.	.	.	.	.	10	110812310	110812310	C	T	exonic	RBM20	.	nonsynonymous SNV	RBM20:NM_001134363:exon9:c.C1913T:p.P638L	10q25.2	.	rs267607003	0.0	D	1.0	D	0.999	D	0.001	N	1	D	1.79	L	-3.13	D	-6.18	D	0.869	6.036	28.0	0.999	0.961	D	0.858	D	0.853	D	0.554	0	5.69	0.871	0.935	0.996	0.219	19.805	Deleterious
807	10	110964362	A	G	Pathogenic/Likely pathogenic, not provided	SHOC2	.	.	.	.	.	.	.	.	.	.	10	110964362	110964362	A	G	exonic	SHOC2	.	nonsynonymous SNV	SHOC2:NM_001269039:exon1:c.A4G:p.S2G,SHOC2:NM_007373:exon2:c.A4G:p.S2G	10q25.2	.	rs267607048	0.0	D	0.954	P	0.916	D	0.000	D	1.000	D	0	N	1.32	T	-0.35	N	0.817	4.661	24.5	0.997	0.989	D	-0.871	T	0.106	T	0.732	0	5.22	1.062	1.083	1.000	1.000	15.105	Tolerated
808	10	119670037	C	T	Pathogenic/Likely pathogenic	BAG3	.	.	.	.	.	.	.	.	.	.	10	119670037	119670037	C	T	exonic	BAG3	.	stopgain	BAG3:NM_004281:exon2:c.C367T:p.R123X	10q26.11	.	rs387906875	.	.	.	.	.	.	0.001	D	1	A	.	.	.	.	.	.	.	11.244	37	0.998	0.859	D	.	.	.	.	0.834	0	3.46	0.598	0.935	0.803	0.556	12.989	Deleterious (FATHMM)
809	10	121515263	T	G	Pathogenic/Likely pathogenic	FGFR2	.	.	.	.	.	.	.	.	.	.	10	121515263	121515263	T	G	exonic	FGFR2	.	nonsynonymous SNV	FGFR2:NM_001144914:exon6:c.T805C:p.Y269H,FGFR2:NM_001144916:exon6:c.T796C:p.Y266H,FGFR2:NM_001144918:exon7:c.T796C:p.Y266H,FGFR2:NM_023029:exon7:c.T874C:p.Y292H,FGFR2:NM_001144913:exon8:c.T1144C:p.Y382H,FGFR2:NM_001144915:exon8:c.T874C:p.Y292H,FGFR2:NM_001144919:exon8:c.T877C:p.Y293H,FGFR2:NM_000141:exon9:c.T1141C:p.Y381H,FGFR2:NM_022970:exon9:c.T1144C:p.Y382H	10q26.13	.	.	0.028	D	1.0	D	0.996	D	0.000	D	1	D	2.885	M	-2.27	D	-3.06	D	0.931	6.137	28.4	0.999	0.993	D	0.816	D	0.816	D	0.672	0	5.83	1.062	1.199	1.000	1.000	16.204	Deleterious
810	10	121515280	A	G	Pathogenic	FGFR2	.	.	.	.	.	.	.	.	.	.	10	121515280	121515280	A	G	exonic	FGFR2	.	nonsynonymous SNV	FGFR2:NM_001144914:exon6:c.A788C:p.Y263S,FGFR2:NM_001144916:exon6:c.A779C:p.Y260S,FGFR2:NM_001144918:exon7:c.A779C:p.Y260S,FGFR2:NM_023029:exon7:c.A857C:p.Y286S,FGFR2:NM_001144913:exon8:c.A1127C:p.Y376S,FGFR2:NM_001144915:exon8:c.A857C:p.Y286S,FGFR2:NM_001144919:exon8:c.A860C:p.Y287S,FGFR2:NM_000141:exon9:c.A1124C:p.Y375S,FGFR2:NM_022970:exon9:c.A1127C:p.Y376S	10q26.13	.	.	0.05	D	0.749	P	0.381	B	0.000	D	1	D	2.345	M	-2.32	D	-4.25	D	0.97	6.184	28.6	0.965	0.990	D	0.371	D	0.646	D	0.672	0	5.83	0.991	1.061	0.998	1.000	16.204	Deleterious
811	10	121520163	C	G	Pathogenic	FGFR2	.	.	.	.	.	.	.	.	.	.	10	121520163	121520163	C	G	exonic	FGFR2	.	synonymous SNV	FGFR2:NM_001144916:exon4:c.C410C:p.S137S,FGFR2:NM_001144918:exon5:c.C410C:p.S137S,FGFR2:NM_023029:exon5:c.C488C:p.S163S,FGFR2:NM_001144913:exon6:c.C755C:p.S252S,FGFR2:NM_001144915:exon6:c.C488C:p.S163S,FGFR2:NM_001144919:exon6:c.C488C:p.S163S,FGFR2:NM_000141:exon7:c.C755C:p.S252S,FGFR2:NM_001144917:exon7:c.C755C:p.S252S,FGFR2:NM_022970:exon7:c.C755C:p.S252S	10q26.13	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
812	10	125815061	T	C	Pathogenic	UROS	.	.	.	.	.	.	.	.	.	.	10	125815061	125815061	T	C	exonic	UROS	.	nonsynonymous SNV	UROS:NM_000375:exon4:c.T217G:p.C73G	10q26.2	.	.	0.024	D	0.896	P	0.822	P	0.000	D	1.000	D	1.895	L	-2.99	D	-5.56	D	0.658	3.512	23.1	0.935	0.792	D	0.532	D	0.782	D	0.732	0	2.96	1.062	1.199	0.835	0.945	8.643	Deleterious
813	11	533553	A	G	Pathogenic	HRAS|LRRC56	.	.	.	.	.	.	.	.	.	.	11	533553	533553	A	G	exonic	HRAS	.	nonsynonymous SNV	HRAS:NM_001130442:exon4:c.A350C:p.K117T,HRAS:NM_005343:exon4:c.A350C:p.K117T,HRAS:NM_176795:exon4:c.A350C:p.K117T	11p15.5	.	.	0.0	D	0.999	D	0.988	D	0.000	D	1	D	5.03	H	-2.31	D	-5.35	D	0.956	5.924	27.6	0.998	0.991	D	0.997	D	0.894	D	0.722	0	4.08	0.991	1.061	0.996	1.000	12.54	Deleterious
814	11	533881	G	A	Pathogenic/Likely pathogenic	HRAS|LRRC56	.	.	.	.	.	.	.	.	.	.	11	533881	533881	G	A	exonic	HRAS	.	nonsynonymous SNV	HRAS:NM_001130442:exon3:c.G175T:p.A59S,HRAS:NM_005343:exon3:c.G175T:p.A59S,HRAS:NM_176795:exon3:c.G175T:p.A59S	11p15.5	.	.	0.021	D	0.68	P	0.701	P	0.000	D	1	D	2.71	M	-2.4	D	-2.69	D	0.604	4.962	25.1	0.996	0.979	D	0.789	D	0.787	D	0.722	0	3.64	0.871	0.852	0.894	0.256	14.843	Deleterious
815	11	534285	G	A	Pathogenic	HRAS|LRRC56	.	.	.	.	.	.	.	.	.	.	11	534285	534285	G	A	exonic	HRAS	.	nonsynonymous SNV	HRAS:NM_001130442:exon2:c.G38T:p.G13V,HRAS:NM_005343:exon2:c.G38T:p.G13V,HRAS:NM_176795:exon2:c.G38T:p.G13V	11p15.5	.	rs104894226	0.0	D	0.997	D	0.966	D	0.000	D	1	D	3.515	H	-0.81	T	-7.61	D	0.923	5.230	25.6	0.996	0.994	D	0.563	D	0.651	D	0.767	0	3.0	0.871	0.852	0.989	0.597	14.152	Deleterious
816	11	534286	G	T	Pathogenic	HRAS|LRRC56	.	.	.	.	.	.	.	.	.	.	11	534286	534286	G	T	exonic	HRAS	.	nonsynonymous SNV	HRAS:NM_001130442:exon2:c.G37A:p.G13S,HRAS:NM_005343:exon2:c.G37A:p.G13S,HRAS:NM_176795:exon2:c.G37A:p.G13S	11p15.5	.	rs104894228	0.021	D	0.87	P	0.447	P	0.000	D	1	D	2.12	M	-0.69	T	-4.93	D	0.725	5.647	26.6	0.997	0.993	D	-0.203	T	0.338	T	0.767	0	3.0	0.871	0.852	0.984	0.574	14.152	Tolerated
817	11	534288	G	A	Pathogenic	HRAS|LRRC56	.	.	.	.	.	.	.	.	.	.	11	534288	534288	G	A	exonic	HRAS	.	nonsynonymous SNV	HRAS:NM_001130442:exon2:c.G35T:p.G12V,HRAS:NM_005343:exon2:c.G35T:p.G12V,HRAS:NM_176795:exon2:c.G35T:p.G12V	11p15.5	.	rs104894230	0.008	D	0.738	P	0.52	P	0.000	D	1	D	3.08	M	-1.2	T	-7.18	D	0.92	4.967	25.1	0.994	0.994	D	0.520	D	0.548	D	0.767	0	3.0	0.871	0.852	0.975	0.552	14.152	Deleterious
818	11	534288	G	C	Pathogenic	HRAS|LRRC56	.	.	.	.	.	.	.	.	.	.	11	534288	534288	G	C	exonic	HRAS	.	synonymous SNV	HRAS:NM_001130442:exon2:c.G35G:p.G12G,HRAS:NM_005343:exon2:c.G35G:p.G12G,HRAS:NM_176795:exon2:c.G35G:p.G12G	11p15.5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
819	11	534288	G	T	Pathogenic	HRAS|LRRC56	.	.	.	.	.	.	.	.	.	.	11	534288	534288	G	T	exonic	HRAS	.	nonsynonymous SNV	HRAS:NM_001130442:exon2:c.G35A:p.G12D,HRAS:NM_005343:exon2:c.G35A:p.G12D,HRAS:NM_176795:exon2:c.G35A:p.G12D	11p15.5	.	rs104894230	0.011	D	0.513	P	0.399	B	0.000	D	1	D	3.305	M	-1.19	T	-5.42	D	0.951	4.754	24.7	0.993	0.993	D	0.357	D	0.559	D	0.767	0	3.0	0.871	0.852	0.975	0.552	14.152	Deleterious
820	11	534289	G	T	Pathogenic	HRAS|LRRC56	.	.	.	.	.	.	.	.	.	.	11	534289	534289	G	T	exonic	HRAS	.	nonsynonymous SNV	HRAS:NM_001130442:exon2:c.G34A:p.G12S,HRAS:NM_005343:exon2:c.G34A:p.G12S,HRAS:NM_176795:exon2:c.G34A:p.G12S	11p15.5	.	rs104894229	0.028	D	0.831	P	0.447	P	0.000	D	1	D	1.535	L	-1.01	T	-4.49	D	0.902	5.636	26.6	0.997	0.993	D	-0.174	T	0.370	T	0.767	0	3.0	0.871	0.852	0.973	0.563	14.152	Tolerated
821	11	534289	G	A	Pathogenic	HRAS|LRRC56	.	.	.	.	.	.	.	.	.	.	11	534289	534289	G	A	exonic	HRAS	.	nonsynonymous SNV	HRAS:NM_001130442:exon2:c.G34T:p.G12C,HRAS:NM_005343:exon2:c.G34T:p.G12C,HRAS:NM_176795:exon2:c.G34T:p.G12C	11p15.5	.	rs104894229	0.009	D	0.682	P	0.448	P	0.000	D	1	D	2.83	M	-1.24	T	-7.22	D	0.932	5.765	27.0	0.995	0.994	D	0.438	D	0.512	D	0.767	0	3.0	0.871	0.852	0.973	0.563	14.152	Deleterious
822	11	1841523	G	A	Pathogenic	TNNI2	.	.	.	.	.	.	.	.	.	.	11	1841523	1841523	G	A	exonic	TNNI2	.	nonsynonymous SNV	TNNI2:NM_001145841:exon6:c.G521A:p.R174Q	11p15.5	.	rs104894311	0.002	D	1.0	D	0.981	D	0.000	D	1.000	A	2.7	M	-4.46	D	-3.25	D	0.797	6.828	33	0.999	0.904	D	1.083	D	0.952	D	0.554	0	2.71	0.917	0.923	0.983	0.999	14.565	Deleterious
823	11	2570719	G	A	Pathogenic	KCNQ1	.	.	.	.	.	.	.	.	.	.	11	2570719	2570719	G	A	exonic	KCNQ1	.	nonsynonymous SNV	KCNQ1:NM_000218:exon3:c.G569A:p.R190Q,KCNQ1:NM_181798:exon3:c.G188A:p.R63Q	11p15.5	.	rs120074178	0.0	D	1.0	D	1.0	D	0.000	D	1.000	D	3.28	M	-4.61	D	-3.64	D	0.948	7.517	34	1.000	0.987	D	1.092	D	0.965	D	0.646	0	4.4	0.917	0.975	0.991	0.991	16.065	Deleterious
824	11	2571333	G	A	Pathogenic	KCNQ1	.	.	.	.	.	.	.	.	.	.	11	2571333	2571333	G	A	exonic	KCNQ1	.	nonsynonymous SNV	KCNQ1:NM_000218:exon4:c.G613A:p.V205M,KCNQ1:NM_181798:exon4:c.G232A:p.V78M	11p15.5	7.7e-05	rs151344631	0.001	D	1.0	D	0.998	D	0.000	D	1	D	2.275	M	-5.22	D	-2.47	N	0.926	6.489	30	0.999	0.989	D	1.097	D	0.965	D	0.583	0	4.46	0.630	0.998	0.914	0.976	16.212	Deleterious
825	11	2572020	C	T	Pathogenic/Likely pathogenic, not provided	KCNQ1	.	.	.	.	.	.	.	.	.	.	11	2572020	2572020	C	T	exonic	KCNQ1	.	nonsynonymous SNV	KCNQ1:NM_000218:exon5:c.C691T:p.R231C,KCNQ1:NM_181798:exon5:c.C310T:p.R104C	11p15.5	.	rs199473457	0.0	D	1.0	D	1.0	D	0.000	D	1	D	3.64	H	-6.3	D	-7.69	D	0.964	7.155	34	0.999	0.957	D	0.977	D	0.989	D	0.677	0	4.17	0.871	0.892	0.046	0.998	15.560	Deleterious
826	11	2572021	G	A	Pathogenic	KCNQ1	.	.	.	.	.	.	.	.	.	.	11	2572021	2572021	G	A	exonic	KCNQ1	.	nonsynonymous SNV	KCNQ1:NM_000218:exon5:c.G692A:p.R231H,KCNQ1:NM_181798:exon5:c.G311A:p.R104H	11p15.5	.	rs199472709	0.0	D	1.0	D	0.993	D	0.000	D	1.000	D	3.295	M	-6.24	D	-4.81	D	0.95	6.146	28.4	0.999	0.905	D	1.040	D	0.987	D	0.677	0	3.24	0.069	0.998	0.036	0.998	12.368	Deleterious
827	11	2572056	C	T	Pathogenic	KCNQ1	.	.	.	.	.	.	.	.	.	.	11	2572056	2572056	C	T	exonic	KCNQ1	.	nonsynonymous SNV	KCNQ1:NM_000218:exon5:c.C727T:p.R243C,KCNQ1:NM_181798:exon5:c.C346T:p.R116C	11p15.5	.	rs199472713	0.0	D	1.0	D	0.997	D	0.000	D	1	D	3.62	H	-5.23	D	-7.78	D	0.974	7.890	35	0.999	0.989	D	1.056	D	0.978	D	0.677	0	4.31	0.871	0.892	0.762	0.998	15.873	Deleterious
828	11	2572089	G	A	Pathogenic/Likely pathogenic, not provided	KCNQ1	.	.	.	.	.	.	.	.	.	.	11	2572089	2572089	G	A	exonic	KCNQ1	.	nonsynonymous SNV	KCNQ1:NM_000218:exon5:c.G760A:p.V254M,KCNQ1:NM_181798:exon5:c.G379A:p.V127M	11p15.5	.	rs120074179	0.0	D	1.0	D	0.999	D	0.000	D	1.000	D	2.32	M	-5.05	D	-2.92	D	0.925	6.061	28.1	0.999	0.945	D	1.094	D	0.964	D	0.677	0	4.14	0.069	0.998	0.615	0.969	15.515	Deleterious
829	11	2572862	T	C	Pathogenic/Likely pathogenic, not provided	KCNQ1	.	.	.	.	.	.	.	.	.	.	11	2572862	2572862	T	C	exonic	KCNQ1	.	nonsynonymous SNV	KCNQ1:NM_000218:exon6:c.T797C:p.L266P,KCNQ1:NM_181798:exon6:c.T416C:p.L139P	11p15.5	.	rs199473460	0.009	D	1.0	D	1.0	D	0.000	D	1	D	3.36	M	-5.41	D	-6.7	D	0.996	5.934	27.6	0.999	0.917	D	1.075	D	0.977	D	0.677	0	3.74	0.079	1.011	0.574	1.000	11.733	Deleterious
830	11	2572895	C	T	Pathogenic/Likely pathogenic, not provided	KCNQ1	.	.	.	.	.	.	.	.	.	.	11	2572895	2572895	C	T	exonic	KCNQ1	.	nonsynonymous SNV	KCNQ1:NM_000218:exon6:c.C830T:p.S277L,KCNQ1:NM_181798:exon6:c.C449T:p.S150L	11p15.5	.	rs199472730	0.0	D	1.0	D	1.0	D	0.000	D	1.000	D	3.28	M	-4.54	D	-5.83	D	0.975	6.716	32	0.999	0.942	D	1.089	D	0.963	D	0.677	0	3.74	0.871	0.892	0.977	0.939	14.657	Deleterious
831	11	2572979	G	A	Pathogenic	KCNQ1	.	.	.	.	.	.	.	.	.	.	11	2572979	2572979	G	A	exonic	KCNQ1	.	stopgain	KCNQ1:NM_000218:exon6:c.G914A:p.W305X,KCNQ1:NM_181798:exon6:c.G533A:p.W178X	11p15.5	.	rs120074186	.	.	.	.	.	.	0.000	D	1	A	.	.	.	.	.	.	.	12.535	39	0.996	0.985	D	.	.	.	.	0.583	0	3.9	0.917	0.998	0.950	1.000	15.014	Deleterious (FATHMM)
832	11	2583478	C	T	Pathogenic/Likely pathogenic, not provided	KCNQ1	.	.	.	.	.	.	.	.	.	.	11	2583478	2583478	C	T	exonic	KCNQ1	.	nonsynonymous SNV	KCNQ1:NM_000218:exon7:c.C965T:p.T322M,KCNQ1:NM_181798:exon7:c.C584T:p.T195M	11p15.5	.	rs199472755	0.0	D	1.0	D	1.0	D	0.000	D	1.000	D	3.845	H	-4.83	D	-5.57	D	0.954	6.841	33	0.999	0.732	D	1.080	D	0.972	D	0.677	0	3.0	0.868	0.925	0.996	1.000	10.889	Deleterious
833	11	2583535	C	A	Pathogenic	KCNQ1	.	.	.	.	.	.	.	.	.	.	11	2583535	2583535	C	A	exonic	KCNQ1	.	nonsynonymous SNV	KCNQ1:NM_000218:exon7:c.C1022A:p.A341E,KCNQ1:NM_181798:exon7:c.C641A:p.A214E	11p15.5	.	rs12720459	0.0	D	1.0	D	0.999	D	0.000	D	1	D	3.63	H	-5.16	D	-4.68	D	0.991	7.239	34	0.994	0.807	D	1.059	D	0.977	D	0.677	0	3.93	0.868	0.925	0.997	0.948	13.852	Deleterious
834	11	2583545	G	A	Pathogenic	KCNQ1	.	.	.	.	.	.	.	.	.	.	11	2583545	2583545	G	A	exonic	KCNQ1	.	synonymous SNV	KCNQ1:NM_000218:exon7:c.G1032A:p.A344A,KCNQ1:NM_181798:exon7:c.G651A:p.A217A	11p15.5	.	rs1800171	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
835	11	2585245	C	T	Pathogenic	KCNQ1	.	.	.	.	.	.	.	.	.	.	11	2585245	2585245	C	T	exonic	KCNQ1	.	stopgain	KCNQ1:NM_000218:exon8:c.C1066T:p.Q356X,KCNQ1:NM_181798:exon8:c.C685T:p.Q229X	11p15.5	.	rs397508072	.	.	.	.	.	.	0.000	D	1	A	.	.	.	.	.	.	.	13.488	42	0.998	0.924	D	.	.	.	.	0.677	0	3.84	0.868	0.881	1.000	0.999	13.702	Deleterious (FATHMM)
836	11	2585275	C	T	Pathogenic/Likely pathogenic, not provided	KCNQ1	.	.	.	.	.	.	.	.	.	.	11	2585275	2585275	C	T	exonic	KCNQ1	.	nonsynonymous SNV	KCNQ1:NM_000218:exon8:c.C1096T:p.R366W,KCNQ1:NM_181798:exon8:c.C715T:p.R239W	11p15.5	.	rs199473411	0.0	D	1.0	D	1.0	D	0.000	D	1.000	D	2.58	M	-5.83	D	-7.31	D	0.941	7.221	34	0.999	0.596	D	1.105	D	0.977	D	0.677	0	0.65	-0.051	0.000	0.996	0.998	10.702	Deleterious
837	11	2768917	C	T	Pathogenic	KCNQ1	.	.	.	.	.	.	.	.	.	.	11	2768917	2768917	C	T	exonic	KCNQ1	.	stopgain	KCNQ1:NM_000218:exon12:c.C1588T:p.Q530X,KCNQ1:NM_181798:exon12:c.C1207T:p.Q403X	11p15.5	.	rs397508097	.	.	.	.	.	.	0.000	D	1	A	.	.	.	.	.	.	.	14.398	46	0.998	0.875	D	.	.	.	.	0.625	0	4.26	0.598	0.935	0.993	0.996	14.567	Deleterious (FATHMM)
838	11	2776006	C	T	Pathogenic	KCNQ1	.	.	.	.	.	.	.	.	.	.	11	2776006	2776006	C	T	exonic	KCNQ1	.	nonsynonymous SNV	KCNQ1:NM_000218:exon13:c.C1637T:p.S546L,KCNQ1:NM_181798:exon13:c.C1256T:p.S419L	11p15.5	.	rs199473480	0.0	D	0.999	D	0.941	D	0.000	D	1.000	D	2.85	M	-6.89	D	-4.82	D	0.901	7.575	34	0.999	0.964	D	0.979	D	0.989	D	0.610	0	3.78	0.598	0.932	0.985	0.996	13.499	Deleterious
839	11	2776032	C	T	Pathogenic	KCNQ1	.	.	.	.	.	.	.	.	.	.	11	2776032	2776032	C	T	exonic	KCNQ1	.	nonsynonymous SNV	KCNQ1:NM_000218:exon13:c.C1663T:p.R555C,KCNQ1:NM_181798:exon13:c.C1282T:p.R428C	11p15.5	.	rs120074185	0.0	D	1.0	D	1.0	D	0.000	D	1	D	2.86	M	-7.5	D	-6.83	D	0.951	7.937	35	0.999	0.805	D	0.954	D	0.993	D	0.677	0	3.78	0.871	0.932	0.985	1.000	8.850	Deleterious
840	11	2777000	T	C	Pathogenic	KCNQ1	.	.	.	.	.	.	.	.	.	.	11	2777000	2777000	T	C	exonic	KCNQ1	.	nonsynonymous SNV	KCNQ1:NM_000218:exon14:c.T1700C:p.I567T,KCNQ1:NM_181798:exon14:c.T1319C:p.I440T	11p15.5	.	rs199472805	0.021	D	0.853	P	0.464	P	0.000	D	0.954	D	1.67	L	-6.51	D	-2.87	D	0.952	5.406	26.0	0.997	0.949	D	1.095	D	0.962	D	0.646	0	4.02	0.079	1.061	0.173	0.993	9.532	Deleterious
841	11	2778003	C	T	Pathogenic	KCNQ1	.	.	.	.	.	.	.	.	.	.	11	2778003	2778003	C	T	exonic	KCNQ1	.	nonsynonymous SNV	KCNQ1:NM_000218:exon15:c.C1760T:p.T587M,KCNQ1:NM_181798:exon15:c.C1379T:p.T460M	11p15.5	.	rs120074189	0.082	T	0.999	D	0.946	D	0.001	N	0.977	A	2.34	M	-6.44	D	-3.64	D	0.89	4.858	24.9	0.998	0.894	D	1.084	D	0.982	D	0.701	0	2.16	0.868	0.890	0.501	0.312	10.236	Deleterious
842	11	2778005	A	T	Pathogenic/Likely pathogenic	KCNQ1	.	.	.	.	.	.	.	.	.	.	11	2778005	2778005	A	T	exonic	KCNQ1	.	nonsynonymous SNV	KCNQ1:NM_000218:exon15:c.A1762T:p.I588F,KCNQ1:NM_181798:exon15:c.A1381T:p.I461F	11p15.5	.	rs794728536	0.003	D	0.992	D	0.932	D	0.002	N	1.000	D	2.175	M	-6.46	D	-2.85	D	0.722	5.076	25.3	0.989	0.881	D	1.092	D	0.979	D	0.701	0	1.96	1.058	1.138	0.461	0.126	6.631	Deleterious
843	11	2778024	G	A	Pathogenic/Likely pathogenic, not provided	KCNQ1	.	.	.	.	.	.	.	.	.	.	11	2778024	2778024	G	A	exonic	KCNQ1	.	nonsynonymous SNV	KCNQ1:NM_000218:exon15:c.G1781A:p.R594Q,KCNQ1:NM_181798:exon15:c.G1400A:p.R467Q	11p15.5	.	rs199472815	0.055	T	1.0	D	0.999	D	0.001	N	1.000	D	1.995	M	-6.45	D	-2.27	N	0.907	5.975	27.7	0.999	0.954	D	1.013	D	0.982	D	0.701	0	3.1	0.626	0.996	0.553	0.794	12.441	Deleterious
844	11	5225832	C	G	Pathogenic	HBB	.	.	.	.	.	.	.	.	.	.	11	5225832	5225832	C	G	intronic	HBB	.	.	.	11p15.4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	probably Tolerated (Intron)
845	11	5226774	C	T	Pathogenic	HBB	.	.	.	.	.	.	.	.	.	.	11	5226774	5226774	C	T	exonic	HBB	.	nonsynonymous SNV	HBB:NM_000518:exon2:c.C118A:p.Q40K	11p15.4	.	rs11549407	0.002	D	0.83	P	0.78	P	.	.	1.000	D	0.82	L	-2.9	D	-3.43	D	0.768	4.085	23.7	0.996	0.874	D	0.556	D	0.731	D	0.487	0	4.13	-0.045	1.048	0.904	1.000	14.385	Deleterious
846	11	5226925	G	A	Pathogenic/Likely pathogenic	HBB	.	.	.	.	.	.	.	.	.	.	11	5226925	5226925	G	A	intronic	HBB	.	.	.	11p15.4	.	rs33915217	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	probably Tolerated (Intron)
847	11	5227002	A	T	Pathogenic, other, protective	HBB	.	.	.	.	.	.	.	.	.	.	11	5227002	5227002	A	T	exonic	HBB	.	synonymous SNV	HBB:NM_000518:exon1:c.A20A:p.E7E	11p15.4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
848	11	5227003	G	A	Pathogenic, protective	HBB	.	.	.	.	.	.	.	.	.	.	11	5227003	5227003	G	A	exonic	HBB	.	stopgain	HBB:NM_000518:exon1:c.G19T:p.E7X	11p15.4	.	.	.	.	.	.	.	.	.	.	1	A	.	.	.	.	.	.	.	7.561	34	0.993	0.471	N	.	.	.	.	0.487	0	5.24	0.871	0.935	0.842	0.033	17.913	Deleterious (DANN)
849	11	6393680	C	T	Pathogenic	SMPD1	.	.	.	.	.	.	.	.	.	.	11	6393680	6393680	C	T	exonic	SMPD1	.	stopgain	SMPD1:NM_000543:exon4:c.C1327T:p.R443X,SMPD1:NM_001007593:exon4:c.C1324T:p.R442X	11p15.4	.	rs120074127	.	.	.	.	.	.	0.008	N	1	A	.	.	.	.	.	.	.	12.735	40	0.998	0.983	D	.	.	.	.	0.732	0	1.65	-0.022	0.020	0.985	0.943	12.363	Deleterious (FATHMM)
850	11	6393981	C	T	Pathogenic/Likely pathogenic	SMPD1	.	.	.	.	.	.	.	.	.	.	11	6393981	6393981	C	T	exonic	SMPD1	.	nonsynonymous SNV	SMPD1:NM_000543:exon5:c.C1426T:p.R476W,SMPD1:NM_001007593:exon5:c.C1423T:p.R475W	11p15.4	.	rs182812968	0.0	D	1.0	D	0.999	D	0.000	D	1	D	3.03	M	-3.27	D	-7.11	D	0.966	8.270	35	0.999	0.932	D	1.027	D	0.905	D	0.707	0	4.74	0.871	0.935	0.994	0.974	16.466	Deleterious
851	11	6615217	G	A	Pathogenic/Likely pathogenic	TPP1	.	.	.	.	.	.	.	.	.	.	11	6615217	6615217	G	A	exonic	TPP1	.	nonsynonymous SNV	TPP1:NM_000391:exon11:c.G1379T:p.W460L	11p15.4	.	.	1.0	T	0.9	P	0.383	B	0.000	D	1	D	1.28	L	-2.96	D	-4.24	D	0.962	3.506	23.1	0.969	0.986	D	0.140	D	0.629	D	0.707	0	5.25	0.871	0.852	1.000	1.000	16.349	Deleterious
852	11	6615442	G	C	Pathogenic	TPP1	.	.	.	.	.	.	.	.	.	.	11	6615442	6615442	G	C	exonic	TPP1	.	synonymous SNV	TPP1:NM_000391:exon10:c.G1266G:p.Q422Q	11p15.4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
853	11	6616056	G	A	Pathogenic/Likely pathogenic, not provided	TPP1	.	.	.	.	.	.	.	.	.	.	11	6616056	6616056	G	A	exonic	TPP1	.	nonsynonymous SNV	TPP1:NM_000391:exon9:c.G1094T:p.C365F	11p15.4	.	.	0.003	D	1.0	D	0.999	D	0.000	D	1	D	3.5	M	-3.0	D	-8.9	D	0.978	6.621	32	0.990	0.979	D	1.047	D	0.913	D	0.732	0	5.56	0.871	0.935	0.997	1.000	18.513	Deleterious
854	11	6616714	A	G	Pathogenic	TPP1	.	.	.	.	.	.	.	.	.	.	11	6616714	6616714	A	G	exonic	TPP1	.	nonsynonymous SNV	TPP1:NM_000391:exon7:c.A833C:p.Q278P	11p15.4	.	.	0.004	D	0.997	D	0.958	D	0.042	N	0.997	D	3.355	M	-5.41	D	-4.55	D	0.848	5.044	25.2	0.994	0.972	D	1.079	D	0.977	D	0.722	0	4.48	0.991	0.952	0.996	0.998	12.600	Deleterious
855	11	6617040	C	T	Pathogenic	TPP1	.	.	.	.	.	.	.	.	.	.	11	6617040	6617040	C	T	exonic	TPP1	.	synonymous SNV	TPP1:NM_000391:exon6:c.C622A:p.R208R	11p15.4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
856	11	6617154	G	C	Pathogenic	TPP1	.	.	.	.	.	.	.	.	.	.	11	6617154	6617154	G	C	splicing	TPP1	NM_000391:exon6:c.509-1C>G	.	.	11p15.4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.
857	11	6617695	T	A	Pathogenic	TPP1	.	.	.	.	.	.	.	.	.	.	11	6617695	6617695	T	A	exonic	TPP1	.	synonymous SNV	TPP1:NM_000391:exon4:c.T311T:p.L104L	11p15.4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
858	11	17387917	G	A	Pathogenic	KCNJ11	.	.	.	.	.	.	.	.	.	.	11	17387917	17387917	G	A	exonic	KCNJ11	.	nonsynonymous SNV	KCNJ11:NM_000525:exon1:c.G175T:p.V59L	11p15.1	.	.	0.371	T	0.926	P	0.69	P	0.000	D	1	D	0.22	N	-3.06	D	-0.39	N	0.76	4.681	24.6	0.992	0.914	D	0.208	D	0.645	D	0.718	0	4.57	0.871	0.852	0.989	0.998	16.962	Deleterious
859	11	17395611	C	T	Pathogenic/Likely pathogenic	ABCC8	.	.	.	.	.	.	.	.	.	.	11	17395611	17395611	C	T	exonic	ABCC8	.	synonymous SNV	ABCC8:NM_000352:exon35:c.C4306A:p.R1436R,ABCC8:NM_001287174:exon35:c.C4309A:p.R1437R	11p15.1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
860	11	17397055	G	A	Pathogenic	ABCC8	.	.	.	.	.	.	.	.	.	.	11	17397055	17397055	G	A	intronic	ABCC8	.	.	.	11p15.1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	probably Tolerated (Intron)
861	11	17404524	G	A	Pathogenic/Likely pathogenic	ABCC8	.	.	.	.	.	.	.	.	.	.	11	17404524	17404524	G	A	exonic	ABCC8	.	nonsynonymous SNV	ABCC8:NM_000352:exon28:c.G3545T:p.R1182L,ABCC8:NM_001287174:exon28:c.G3548T:p.R1183L	11p15.1	.	rs193922400	1.0	T	0.004	B	0.007	B	0.000	D	1	D	1.075	L	-2.47	D	-1.2	N	0.977	4.534	24.3	0.998	0.948	D	-0.214	T	0.544	D	0.615	0	5.32	0.871	0.834	1.000	0.995	19.006	Deleterious
862	11	17531431	G	A	Pathogenic	USH1C	.	.	.	.	.	.	.	.	.	.	11	17531431	17531431	G	A	exonic	USH1C	.	synonymous SNV	USH1C:NM_001297764:exon3:c.G216T:p.V72V,USH1C:NM_005709:exon3:c.G216T:p.V72V,USH1C:NM_153676:exon3:c.G216T:p.V72V	11p15.1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
863	11	19188281	A	C	Pathogenic/Likely pathogenic	CSRP3	.	.	.	.	.	.	.	.	.	.	11	19188281	19188281	A	C	exonic	CSRP3	.	nonsynonymous SNV	CSRP3:NM_003476:exon4:c.A136G:p.S46G	11p15.1	.	.	0.0	D	1.0	D	1.0	D	0.000	D	1	D	1.335	L	-2.82	D	-3.8	D	0.622	5.289	25.7	0.999	0.979	D	0.693	D	0.783	D	0.487	0	5.64	0.991	1.061	0.999	0.997	15.531	Deleterious
864	11	22203803	G	A	Pathogenic	ANO5	.	.	.	.	.	.	.	.	.	.	11	22203803	22203803	G	A	splicing	ANO5	NM_213599:exon2:c.41-1G>A,NM_001142649:exon2:c.41-1G>A	.	.	11p14.3	.	rs398124625	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	2.657	20.6	0.964	0.924	D	.	.	.	.	0.075	0	4.02	0.630	1.048	0.216	0.647	11.964	Deleterious (FATHMM)
865	11	22218279	C	T	Pathogenic/Likely pathogenic	ANO5	.	.	.	.	.	.	.	.	.	.	11	22218279	22218279	C	T	exonic	ANO5	.	nonsynonymous SNV	ANO5:NM_001142649:exon4:c.C169T:p.R57W,ANO5:NM_213599:exon4:c.C172T:p.R58W	11p14.3	7.7e-05	rs201725369	0.006	D	1.0	D	0.998	D	0.000	D	0.999	D	1.905	M	-0.67	T	-3.08	D	0.9	8.343	35	0.999	0.958	D	0.025	D	0.530	D	0.487	0	5.87	0.871	0.852	0.997	0.993	20.219	Deleterious
866	11	22236206	G	T	Pathogenic	ANO5	.	.	.	.	.	.	.	.	.	.	11	22236206	22236206	G	T	exonic	ANO5	.	nonsynonymous SNV	ANO5:NM_001142649:exon8:c.G689T:p.G230V,ANO5:NM_213599:exon8:c.G692T:p.G231V	11p14.3	0.0008	rs137854523	0.07	T	0.997	D	0.953	D	0.000	D	1	A	2.14	M	-0.25	T	-5.26	D	0.811	5.011	25.1	0.998	0.972	D	-0.288	T	0.473	T	0.554	0	5.77	0.917	1.048	0.952	0.986	20.347	Tolerated
867	11	22236277	G	A	Pathogenic	ANO5	.	.	.	.	.	.	.	.	.	.	11	22236277	22236277	G	A	splicing	ANO5	NM_213599:exon8:c.762+1G>A,NM_001142649:exon8:c.759+1G>A	.	.	11p14.3	7.7e-05	rs372221490	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	5.296	25.7	0.995	0.992	D	.	.	.	.	0.075	0	5.64	0.917	1.048	0.977	0.794	20.063	Deleterious (FATHMM)
868	11	22255400	C	T	Pathogenic	ANO5	.	.	.	.	.	.	.	.	.	.	11	22255400	22255400	C	T	exonic	ANO5	.	stopgain	ANO5:NM_001142649:exon13:c.C1207T:p.R403X,ANO5:NM_213599:exon13:c.C1210T:p.R404X	11p14.3	.	rs566415362	.	.	.	.	.	.	0.000	D	1	A	.	.	.	.	.	.	.	14.271	45	0.998	0.958	D	.	.	.	.	0.615	0	5.11	0.871	0.044	0.994	0.987	18.535	Deleterious (FATHMM)
869	11	22274605	C	T	Pathogenic	ANO5	.	.	.	.	.	.	.	.	.	.	11	22274605	22274605	C	T	exonic	ANO5	.	nonsynonymous SNV	ANO5:NM_001142649:exon20:c.C2269T:p.R757C,ANO5:NM_213599:exon20:c.C2272T:p.R758C	11p14.3	.	rs137854529	0.0	D	1.0	D	0.996	D	0.000	D	1	A	3.62	H	-1.03	T	-7.34	D	0.93	7.177	34	0.999	0.972	D	0.738	D	0.748	D	0.638	0	5.24	0.871	0.935	0.987	0.926	19.241	Deleterious
870	11	31789935	A	T	Pathogenic	PAX6	.	.	.	.	.	.	.	.	.	.	11	31789935	31789935	A	T	exonic	PAX6	.	synonymous SNV	PAX6:NM_001310160:exon10:c.A860A:p.X287X,PAX6:NM_001310161:exon11:c.A860A:p.X287X,PAX6:NM_001258465:exon12:c.A1268A:p.X423X,PAX6:NM_000280:exon13:c.A1268A:p.X423X,PAX6:NM_001127612:exon13:c.A1268A:p.X423X,PAX6:NM_001258464:exon13:c.A1268A:p.X423X,PAX6:NM_001258462:exon14:c.A1310A:p.X437X,PAX6:NM_001258463:exon14:c.A1310A:p.X437X,PAX6:NM_001310158:exon14:c.A1310A:p.X437X,PAX6:NM_001604:exon14:c.A1310A:p.X437X	11p13	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
871	11	36573626	C	T	Pathogenic/Likely pathogenic	RAG1	.	.	.	.	.	.	.	.	.	.	11	36573626	36573626	C	T	exonic	RAG1	.	stopgain	RAG1:NM_000448:exon2:c.C322T:p.R108X	11p12	7.7e-05	rs193922464	.	.	.	.	.	.	0.012	N	1	D	.	.	.	.	.	.	.	7.548	34	0.997	0.867	D	.	.	.	.	0.549	0	3.2	-0.022	-0.420	0.952	0.114	10.060	Deleterious (FATHMM)
872	11	47331882	G	A	Pathogenic/Likely pathogenic	MYBPC3	.	.	.	.	.	.	.	.	.	.	11	47331882	47331882	G	A	splicing	MYBPC3	NM_000256:exon33:c.3815-1C>T	.	.	11p11.2	.	.	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	5.269	25.7	0.986	0.690	D	.	.	.	.	0.060	0	4.43	0.871	0.925	0.983	0.950	9.295	Deleterious (FATHMM)
873	11	47332075	C	T	Pathogenic/Likely pathogenic	MYBPC3	.	.	.	.	.	.	.	.	.	.	11	47332075	47332075	C	T	exonic	MYBPC3	.	synonymous SNV	MYBPC3:NM_000256:exon32:c.C3811A:p.R1271R	11p11.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
874	11	47332189	C	T	Pathogenic/Likely pathogenic	MYBPC3	.	.	.	.	.	.	.	.	.	.	11	47332189	47332189	C	T	exonic	MYBPC3	.	nonsynonymous SNV	MYBPC3:NM_000256:exon32:c.C3697A:p.Q1233K	11p11.2	.	.	0.007	D	0.854	P	0.85	P	.	.	1.000	D	0.58	N	-0.7	T	-3.11	D	0.377	5.594	26.5	0.994	0.978	D	-0.306	T	0.342	T	0.581	0	4.54	0.917	1.036	1.000	0.997	15.287	Tolerated
875	11	47332244	G	A	Pathogenic/Likely pathogenic	MYBPC3	.	.	.	.	.	.	.	.	.	.	11	47332244	47332244	G	A	exonic	MYBPC3	.	nonsynonymous SNV	MYBPC3:NM_000256:exon32:c.G3642T:p.W1214C	11p11.2	.	.	0.0	D	1.0	D	1.0	D	.	.	1	D	4.55	H	-3.97	D	-11.86	D	0.989	7.792	35	0.993	0.983	D	1.076	D	0.970	D	0.581	0	5.46	0.871	0.925	1.000	1.000	18.077	Deleterious
876	11	47332245	G	A	Pathogenic	MYBPC3	.	.	.	.	.	.	.	.	.	.	11	47332245	47332245	G	A	exonic	MYBPC3	.	nonsynonymous SNV	MYBPC3:NM_000256:exon32:c.G3641T:p.W1214L	11p11.2	.	.	0.0	D	1.0	D	1.0	D	.	.	1	D	3.655	H	-3.96	D	-11.86	D	0.957	7.657	35	0.988	0.989	D	1.100	D	0.958	D	0.403	0	5.46	0.871	0.925	1.000	1.000	18.077	Deleterious
877	11	47332565	G	A	Pathogenic	MYBPC3	.	.	.	.	.	.	.	.	.	.	11	47332565	47332565	G	A	splicing	MYBPC3	NM_000256:exon31:c.3627+1C>T	.	.	11p11.2	.	.	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	6.112	28.3	0.995	0.995	D	.	.	.	.	0.057	0	5.34	0.871	0.920	0.944	0.958	17.819	Deleterious (FATHMM)
878	11	47332704	A	T	Pathogenic	MYBPC3	.	.	.	.	.	.	.	.	.	.	11	47332704	47332704	A	T	splicing	MYBPC3	NM_000256:exon31:c.3491-2T>A	.	.	11p11.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.
879	11	47332896	C	A	Pathogenic	MYBPC3	.	.	.	.	.	.	.	.	.	.	11	47332896	47332896	C	A	exonic	MYBPC3	.	synonymous SNV	MYBPC3:NM_000256:exon30:c.C3408T:p.Y1136Y	11p11.2	.	rs193922383	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
880	11	47332975	A	C	Pathogenic/Likely pathogenic	MYBPC3	.	.	.	.	.	.	.	.	.	.	11	47332975	47332975	A	C	splicing	MYBPC3	NM_000256:exon30:c.3331-2T>G	.	.	11p11.2	.	.	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	4.964	25.1	0.995	0.985	D	.	.	.	.	0.057	0	5.49	0.991	1.044	0.815	0.991	14.558	Deleterious (FATHMM)
881	11	47333189	G	T	Pathogenic/Likely pathogenic	MYBPC3	.	.	.	.	.	.	.	.	.	.	11	47333189	47333189	G	T	intronic	MYBPC3	.	.	.	11p11.2	.	rs373746463	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	probably Tolerated (Intron)
882	11	47333189	G	C	Pathogenic/Likely pathogenic	MYBPC3	.	.	.	.	.	.	.	.	.	.	11	47333189	47333189	G	C	intronic	MYBPC3	.	.	.	11p11.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	probably Tolerated (Intron)
883	11	47333192	T	G	Pathogenic/Likely pathogenic	MYBPC3	.	.	.	.	.	.	.	.	.	.	11	47333192	47333192	T	G	splicing	MYBPC3	NM_000256:exon29:c.3330+2A>C	.	.	11p11.2	.	rs387906397	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	5.128	25.4	0.994	0.993	D	.	.	.	.	0.078	0	5.36	1.062	1.120	0.949	0.991	14.320	Deleterious (FATHMM)
884	11	47333238	G	T	Pathogenic/Likely pathogenic	MYBPC3	.	.	.	.	.	.	.	.	.	.	11	47333238	47333238	G	T	exonic	MYBPC3	.	nonsynonymous SNV	MYBPC3:NM_000256:exon29:c.G3286A:p.E1096K	11p11.2	.	rs121909377	0.035	D	0.815	P	0.643	P	.	.	0.999	D	2.66	M	0.35	T	-2.39	N	0.582	6.527	31	0.999	0.967	D	-0.478	T	0.283	T	0.554	0	5.36	0.871	0.876	0.982	0.966	14.171	Tolerated
885	11	47333271	G	T	Pathogenic/Likely pathogenic	MYBPC3	.	.	.	.	.	.	.	.	.	.	11	47333271	47333271	G	T	exonic	MYBPC3	.	nonsynonymous SNV	MYBPC3:NM_000256:exon29:c.G3253A:p.E1085K	11p11.2	.	.	0.184	T	0.887	P	0.775	P	.	.	1	D	1.81	L	0.4	T	-2.65	D	0.949	6.353	29.4	0.999	0.975	D	-0.721	T	0.262	T	0.554	0	5.36	0.871	0.876	1.000	1.000	17.842	Tolerated
886	11	47333552	G	A	Pathogenic/Likely pathogenic	MYBPC3	.	.	.	.	.	.	.	.	.	.	11	47333552	47333552	G	A	intronic	MYBPC3	.	.	.	11p11.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	probably Tolerated (Intron)
887	11	47333555	T	G	Pathogenic	MYBPC3	.	.	.	.	.	.	.	.	.	.	11	47333555	47333555	T	G	splicing	MYBPC3	NM_000256:exon28:c.3190+2A>C	.	.	11p11.2	.	rs113358486	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	3.662	23.2	0.983	0.962	D	.	.	.	.	0.054	0	4.02	1.062	1.120	0.523	0.128	10.693	Deleterious (FATHMM)
888	11	47333556	G	A	Pathogenic/Likely pathogenic	MYBPC3	.	.	.	.	.	.	.	.	.	.	11	47333556	47333556	G	A	splicing	MYBPC3	NM_000256:exon28:c.3190+1C>T	.	.	11p11.2	.	.	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	4.808	24.8	0.990	0.995	D	.	.	.	.	0.054	0	5.22	0.871	0.876	0.546	0.119	18.381	Deleterious (FATHMM)
889	11	47333566	C	T	Pathogenic	MYBPC3	.	.	.	.	.	.	.	.	.	.	11	47333566	47333566	C	T	exonic	MYBPC3	.	nonsynonymous SNV	MYBPC3:NM_000256:exon28:c.C3181A:p.Q1061K	11p11.2	.	.	0.196	T	0.04	B	0.181	B	.	.	0.999	D	1.375	L	-0.2	T	-2.63	D	0.524	2.104	16.88	0.972	0.989	D	-0.727	T	0.224	T	0.517	0	4.25	0.917	0.981	0.987	0.901	14.883	Tolerated
890	11	47333996	C	T	Pathogenic	MYBPC3	.	.	.	.	.	.	.	.	.	.	11	47333996	47333996	C	T	exonic	MYBPC3	.	nonsynonymous SNV	MYBPC3:NM_000256:exon27:c.C2920A:p.Q974K	11p11.2	.	.	0.289	T	0.018	B	0.011	B	.	.	0.808	N	-0.145	N	0.45	T	-0.24	N	0.167	2.791	21.3	0.985	0.919	D	-1.065	T	0.071	T	0.403	0	5.12	0.917	1.031	0.983	0.929	6.535	Tolerated
891	11	47335042	C	T	Pathogenic	MYBPC3	.	.	.	.	.	.	.	.	.	.	11	47335042	47335042	C	T	exonic	MYBPC3	.	nonsynonymous SNV	MYBPC3:NM_000256:exon26:c.C2905A:p.Q969K	11p11.2	.	.	0.026	D	0.152	B	0.177	B	.	.	1.000	D	1.52	L	0.42	T	-2.06	N	0.354	4.055	23.7	0.987	0.965	D	-0.968	T	0.144	T	0.403	0	3.14	-0.044	0.088	0.994	0.996	12.144	Tolerated
892	11	47335120	C	T	Pathogenic/Likely pathogenic	MYBPC3	.	.	.	.	.	.	.	.	.	.	11	47335120	47335120	C	T	exonic	MYBPC3	.	synonymous SNV	MYBPC3:NM_000256:exon26:c.C2827A:p.R943R	11p11.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
893	11	47335944	G	A	Pathogenic/Likely pathogenic	MYBPC3	.	.	.	.	.	.	.	.	.	.	11	47335944	47335944	G	A	exonic	MYBPC3	.	nonsynonymous SNV	MYBPC3:NM_000256:exon25:c.G2670T:p.W890C	11p11.2	.	.	0.0	D	1.0	D	1.0	D	.	.	1	D	4.585	H	-2.1	D	-11.88	D	0.992	7.353	34	0.993	0.966	D	1.079	D	0.898	D	0.554	0	5.28	0.871	0.841	0.999	0.999	18.921	Deleterious
894	11	47337452	C	G	Pathogenic/Likely pathogenic	MYBPC3	.	.	.	.	.	.	.	.	.	.	11	47337452	47337452	C	G	exonic	MYBPC3	.	synonymous SNV	MYBPC3:NM_000256:exon24:c.C2541C:p.Y847Y	11p11.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
895	11	47337539	G	A	Pathogenic	MYBPC3	.	.	.	.	.	.	.	.	.	.	11	47337539	47337539	G	A	exonic	MYBPC3	.	nonsynonymous SNV	MYBPC3:NM_000256:exon24:c.G2454T:p.W818C	11p11.2	.	.	0.0	D	0.994	D	0.957	D	.	.	1	D	3.87	H	0.3	T	-11.74	D	0.951	7.357	34	0.992	0.948	D	0.402	D	0.532	D	0.554	0	4.6	0.871	0.932	1.000	0.996	17.626	Deleterious
896	11	47337712	C	A	Pathogenic/Likely pathogenic	MYBPC3	.	.	.	.	.	.	.	.	.	.	11	47337712	47337712	C	A	exonic	MYBPC3	.	synonymous SNV	MYBPC3:NM_000256:exon23:c.C2391T:p.Y797Y	11p11.2	.	rs727504864	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
897	11	47337729	T	C	Pathogenic/Likely pathogenic	MYBPC3	.	.	.	.	.	.	.	.	.	.	11	47337729	47337729	T	C	exonic	MYBPC3	.	nonsynonymous SNV	MYBPC3:NM_000256:exon23:c.T2374G:p.W792G	11p11.2	.	rs187830361	0.0	D	1.0	D	0.997	D	.	.	1.000	D	4.465	H	-1.82	D	-11.15	D	0.984	5.367	25.9	0.977	0.952	D	0.888	D	0.846	D	0.403	0	3.99	1.062	1.108	0.996	0.860	11.030	Deleterious
898	11	47337796	A	G	Pathogenic/Likely pathogenic	MYBPC3	.	.	.	.	.	.	.	.	.	.	11	47337796	47337796	A	G	splicing	MYBPC3	NM_000256:exon23:c.2309-2T>C	.	.	11p11.2	.	rs111729952	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	3.577	23.2	0.983	0.997	D	.	.	.	.	0.057	0	4.66	0.991	0.982	0.340	0.185	13.428	Deleterious (FATHMM)
899	11	47338519	G	T	Pathogenic	MYBPC3	.	.	.	.	.	.	.	.	.	.	11	47338519	47338519	G	T	splicing	MYBPC3	NM_000256:exon22:c.2308+1C>A	.	.	11p11.2	8e-05	rs112738974	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	5.910	27.5	0.995	0.987	D	.	.	.	.	0.057	0	5.4	0.871	0.932	0.987	0.995	19.209	Deleterious (FATHMM)
900	11	47338519	G	A	Pathogenic	MYBPC3	.	.	.	.	.	.	.	.	.	.	11	47338519	47338519	G	A	splicing	MYBPC3	NM_000256:exon22:c.2308+1C>T	.	.	11p11.2	.	rs112738974	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	5.917	27.5	0.995	0.990	D	.	.	.	.	0.057	0	5.4	0.871	0.932	0.987	0.995	19.209	Deleterious (FATHMM)
901	11	47338520	G	A	Pathogenic/Likely pathogenic	MYBPC3	.	.	.	.	.	.	.	.	.	.	11	47338520	47338520	G	A	exonic	MYBPC3	.	nonsynonymous SNV	MYBPC3:NM_000256:exon22:c.G2308T:p.D770Y	11p11.2	.	.	0.0	D	0.999	D	0.979	D	.	.	1	D	3.69	H	0.29	T	-7.22	D	0.765	7.574	34	0.994	0.990	D	0.319	D	0.532	D	0.403	0	5.4	0.871	0.932	0.992	0.997	19.209	Deleterious
902	11	47338646	G	T	Pathogenic	MYBPC3	.	.	.	.	.	.	.	.	.	.	11	47338646	47338646	G	T	exonic	MYBPC3	.	nonsynonymous SNV	MYBPC3:NM_000256:exon22:c.G2182A:p.E728K	11p11.2	.	.	0.073	T	0.577	P	0.729	P	.	.	1	D	1.465	L	-0.18	T	-3.45	D	0.928	6.196	28.7	0.999	0.993	D	-0.370	T	0.354	T	0.554	0	5.4	0.871	0.935	0.999	0.993	19.209	Tolerated
903	11	47339653	C	T	Pathogenic/Likely pathogenic	MYBPC3	.	.	.	.	.	.	.	.	.	.	11	47339653	47339653	C	T	exonic	MYBPC3	.	nonsynonymous SNV	MYBPC3:NM_000256:exon20:c.C2065A:p.Q689K	11p11.2	.	.	0.775	T	0.0	B	0.001	B	.	.	0.582	N	-0.69	N	0.47	T	-0.3	N	0.117	0.162	4.278	0.386	0.727	D	-1.020	T	0.058	T	0.403	0	2.95	0.917	1.048	0.616	0.149	9.876	Tolerated
904	11	47339670	G	A	Pathogenic/Likely pathogenic	MYBPC3	.	.	.	.	.	.	.	.	.	.	11	47339670	47339670	G	A	exonic	MYBPC3	.	nonsynonymous SNV	MYBPC3:NM_000256:exon20:c.G2048T:p.W683L	11p11.2	.	.	0.001	D	1.0	D	0.999	D	.	.	1	D	3.42	M	-3.96	D	-10.89	D	0.901	7.304	34	0.987	0.982	D	1.100	D	0.954	D	0.403	0	4.9	0.871	0.935	0.942	0.998	18.259	Deleterious
905	11	47339792	A	G	Pathogenic	MYBPC3	.	.	.	.	.	.	.	.	.	.	11	47339792	47339792	A	G	splicing	MYBPC3	NM_000256:exon20:c.1928-2T>C	.	.	11p11.2	.	.	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	4.316	24.0	0.994	0.979	D	.	.	.	.	0.057	0	4.9	0.991	1.061	0.871	0.887	14.684	Deleterious (FATHMM)
906	11	47341137	G	A	Pathogenic	MYBPC3	.	.	.	.	.	.	.	.	.	.	11	47341137	47341137	G	A	splicing	MYBPC3	NM_000256:exon18:c.1897+1C>T	.	.	11p11.2	.	.	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	5.941	27.6	0.995	0.995	D	.	.	.	.	0.057	0	4.9	0.871	0.935	0.997	0.997	18.266	Deleterious (FATHMM)
907	11	47342574	A	T	Pathogenic/Likely pathogenic	MYBPC3	.	.	.	.	.	.	.	.	.	.	11	47342574	47342574	A	T	intronic	MYBPC3	.	.	.	11p11.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	probably Tolerated (Intron)
908	11	47342576	T	C	Pathogenic	MYBPC3	.	.	.	.	.	.	.	.	.	.	11	47342576	47342576	T	C	splicing	MYBPC3	NM_000256:exon16:c.1624+2A>G	.	.	11p11.2	.	.	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	3.254	22.8	0.979	0.973	D	.	.	.	.	0.057	0	3.49	1.062	1.199	0.973	0.924	10.017	Deleterious (FATHMM)
909	11	47342578	G	C	Pathogenic/Likely pathogenic	MYBPC3	.	.	.	.	.	.	.	.	.	.	11	47342578	47342578	G	C	exonic	MYBPC3	.	synonymous SNV	MYBPC3:NM_000256:exon16:c.G1624G:p.E542E	11p11.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
910	11	47342627	T	G	Pathogenic/Likely pathogenic	MYBPC3	.	.	.	.	.	.	.	.	.	.	11	47342627	47342627	T	G	exonic	MYBPC3	.	synonymous SNV	MYBPC3:NM_000256:exon16:c.T1575C:p.Y525Y	11p11.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
911	11	47342697	G	A	Pathogenic/Likely pathogenic	MYBPC3	.	.	.	.	.	.	.	.	.	.	11	47342697	47342697	G	A	exonic	MYBPC3	.	nonsynonymous SNV	MYBPC3:NM_000256:exon16:c.G1505T:p.R502L	11p11.2	.	rs397515907	0.003	D	0.597	P	0.678	P	.	.	1.000	D	2.4	M	-0.26	T	-5.78	D	0.911	7.774	35	0.998	0.988	D	-0.042	T	0.447	T	0.403	0	4.63	0.871	0.935	0.999	1.000	17.644	Tolerated
912	11	47342718	G	A	Pathogenic/Likely pathogenic	MYBPC3	.	.	.	.	.	.	.	.	.	.	11	47342718	47342718	G	A	exonic	MYBPC3	.	nonsynonymous SNV	MYBPC3:NM_000256:exon16:c.G1484T:p.R495L	11p11.2	.	.	0.177	T	0.118	B	0.224	B	.	.	1.000	D	1.255	L	-0.25	T	-4.39	D	0.895	6.459	29.9	0.997	0.979	D	-0.629	T	0.268	T	0.554	0	4.63	0.871	0.935	0.993	0.995	17.644	Tolerated
913	11	47342719	C	G	Pathogenic/Likely pathogenic	MYBPC3	.	.	.	.	.	.	.	.	.	.	11	47342719	47342719	C	G	exonic	MYBPC3	.	synonymous SNV	MYBPC3:NM_000256:exon16:c.C1483C:p.R495R	11p11.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
914	11	47342745	G	A	Pathogenic	MYBPC3	.	.	.	.	.	.	.	.	.	.	11	47342745	47342745	G	A	splicing	MYBPC3	NM_000256:exon16:c.1458-1C>T	.	.	11p11.2	.	.	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	5.309	25.8	0.994	0.987	D	.	.	.	.	0.078	0	4.63	0.871	0.935	0.997	0.959	17.644	Deleterious (FATHMM)
915	11	47343019	T	C	Pathogenic	MYBPC3	.	.	.	.	.	.	.	.	.	.	11	47343019	47343019	T	C	splicing	MYBPC3	NM_000256:exon14:c.1351+2A>G	.	.	11p11.2	.	.	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	3.169	22.7	0.966	0.993	D	.	.	.	.	0.057	0	3.71	0.126	1.199	0.778	0.988	10.488	Deleterious (FATHMM)
916	11	47343020	G	A	Pathogenic/Likely pathogenic	MYBPC3	.	.	.	.	.	.	.	.	.	.	11	47343020	47343020	G	A	splicing	MYBPC3	NM_000256:exon14:c.1351+1C>T	.	.	11p11.2	.	.	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	4.257	23.9	0.986	0.996	D	.	.	.	.	0.057	0	4.87	0.871	0.935	0.885	0.995	17.791	Deleterious (FATHMM)
917	11	47343147	A	G	Pathogenic/Likely pathogenic	MYBPC3	.	.	.	.	.	.	.	.	.	.	11	47343147	47343147	A	G	exonic	MYBPC3	.	synonymous SNV	MYBPC3:NM_000256:exon14:c.A1225C:p.R409R	11p11.2	.	.	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	4.246	23.9	0.994	0.986	D	.	.	.	.	0.057	0	4.72	0.991	1.061	0.941	0.898	14.026	Deleterious (FATHMM)
918	11	47343505	C	T	Pathogenic	MYBPC3	.	.	.	.	.	.	.	.	.	.	11	47343505	47343505	C	T	exonic	MYBPC3	.	nonsynonymous SNV	MYBPC3:NM_000256:exon13:c.C1210A:p.Q404K	11p11.2	.	.	0.837	T	0.015	B	0.03	B	.	.	0.833	D	-0.495	N	-0.15	T	0.2	N	0.359	1.303	12.28	0.629	0.902	D	-0.980	T	0.093	T	0.517	0	4.99	0.913	1.043	1.000	1.000	13.444	Tolerated
919	11	47346206	G	T	Pathogenic/Likely pathogenic	MYBPC3	.	.	.	.	.	.	.	.	.	.	11	47346206	47346206	G	T	splicing	MYBPC3	NM_000256:exon12:c.1090+1C>A	.	.	11p11.2	.	rs727504269	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	5.855	27.3	0.994	0.992	D	.	.	.	.	0.057	0	4.7	0.871	0.935	0.939	0.949	17.827	Deleterious (FATHMM)
920	11	47346206	G	A	Pathogenic/Likely pathogenic	MYBPC3	.	.	.	.	.	.	.	.	.	.	11	47346206	47346206	G	A	splicing	MYBPC3	NM_000256:exon12:c.1090+1C>T	.	.	11p11.2	.	rs727504269	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	6.173	28.6	0.994	0.993	D	.	.	.	.	0.057	0	4.7	0.871	0.935	0.939	0.949	17.827	Deleterious (FATHMM)
921	11	47346297	G	T	Pathogenic/Likely pathogenic	MYBPC3	.	.	.	.	.	.	.	.	.	.	11	47346297	47346297	G	T	exonic	MYBPC3	.	nonsynonymous SNV	MYBPC3:NM_000256:exon12:c.G1000A:p.E334K	11p11.2	.	rs573916965	0.002	D	0.874	P	0.334	B	.	.	1	D	2.73	M	-0.32	T	-3.56	D	0.96	4.875	24.9	0.999	0.992	D	-0.027	T	0.385	T	0.570	0	4.7	0.853	0.934	0.978	0.985	17.827	Tolerated
922	11	47346298	C	G	Pathogenic	MYBPC3	.	.	.	.	.	.	.	.	.	.	11	47346298	47346298	C	G	exonic	MYBPC3	.	synonymous SNV	MYBPC3:NM_000256:exon12:c.C999C:p.Y333Y	11p11.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
923	11	47346331	G	A	Pathogenic	MYBPC3	.	.	.	.	.	.	.	.	.	.	11	47346331	47346331	G	A	exonic	MYBPC3	.	nonsynonymous SNV	MYBPC3:NM_000256:exon12:c.G966T:p.W322C	11p11.2	.	.	0.001	D	0.998	D	0.95	D	.	.	1	D	2.585	M	0.18	T	-11.7	D	0.833	6.920	33	0.993	0.989	D	-0.068	T	0.414	T	0.570	0	4.7	0.853	0.934	0.999	0.998	17.827	Tolerated
924	11	47346365	C	A	Pathogenic/Likely pathogenic	MYBPC3	.	.	.	.	.	.	.	.	.	.	11	47346365	47346365	C	A	exonic	MYBPC3	.	nonsynonymous SNV	MYBPC3:NM_000256:exon12:c.C932T:p.S311L	11p11.2	.	rs193922386	0.18	T	0.045	B	0.007	B	.	.	0.993	N	0.345	N	0.36	T	-1.08	N	0.72	3.057	22.4	0.997	0.188	N	-1.001	T	0.118	T	0.570	0	4.4	0.897	0.951	0.990	0.972	13.689	Tolerated
925	11	47346372	A	G	Pathogenic	MYBPC3	.	.	.	.	.	.	.	.	.	.	11	47346372	47346372	A	G	splicing	MYBPC3	NM_000256:exon12:c.927-2T>C	.	.	11p11.2	.	.	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	4.198	23.9	0.970	0.882	D	.	.	.	.	0.057	0	4.4	0.877	0.963	0.976	0.962	11.607	Deleterious (FATHMM)
926	11	47346379	G	A	Pathogenic/Likely pathogenic	MYBPC3	.	.	.	.	.	.	.	.	.	.	11	47346379	47346379	G	A	intronic	MYBPC3	.	.	.	11p11.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	probably Tolerated (Intron)
927	11	47347852	G	A	Pathogenic/Likely pathogenic	MYBPC3	.	.	.	.	.	.	.	.	.	.	11	47347852	47347852	G	A	intronic	MYBPC3	.	.	.	11p11.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	probably Tolerated (Intron)
928	11	47347856	G	C	Pathogenic	MYBPC3	.	.	.	.	.	.	.	.	.	.	11	47347856	47347856	G	C	splicing	MYBPC3	NM_000256:exon7:c.821+1C>G	.	.	11p11.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.
929	11	47347856	G	A	Pathogenic/Likely pathogenic	MYBPC3	.	.	.	.	.	.	.	.	.	.	11	47347856	47347856	G	A	splicing	MYBPC3	NM_000256:exon7:c.821+1C>T	.	.	11p11.2	.	.	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	5.174	25.5	0.991	0.989	D	.	.	.	.	0.057	0	5.55	0.871	0.892	0.120	0.995	17.681	Deleterious (FATHMM)
930	11	47348423	G	A	Pathogenic/Likely pathogenic	MYBPC3	.	.	.	.	.	.	.	.	.	.	11	47348423	47348423	G	A	splicing	MYBPC3	NM_000256:exon6:c.772+1C>T	.	.	11p11.2	.	.	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	5.582	26.5	0.995	0.963	D	.	.	.	.	0.057	0	5.12	0.871	0.852	0.962	0.915	18.565	Deleterious (FATHMM)
931	11	47348424	G	A	Pathogenic/Likely pathogenic	MYBPC3	.	.	.	.	.	.	.	.	.	.	11	47348424	47348424	G	A	exonic	MYBPC3	.	stopgain	MYBPC3:NM_000256:exon6:c.G772T:p.E258X	11p11.2	.	.	.	.	.	.	.	.	.	.	1	A	.	.	.	.	.	.	.	11.730	38	0.997	0.963	D	.	.	.	.	0.403	0	5.12	0.871	0.852	0.965	0.908	18.565	Deleterious (FATHMM)
932	11	47348541	G	T	Pathogenic/Likely pathogenic	MYBPC3	.	.	.	.	.	.	.	.	.	.	11	47348541	47348541	G	T	exonic	MYBPC3	.	nonsynonymous SNV	MYBPC3:NM_000256:exon6:c.G655A:p.V219I	11p11.2	.	.	0.452	T	0.012	B	0.201	B	.	.	1.000	D	-0.105	N	-0.43	T	-0.18	N	0.087	0.927	10.23	0.944	0.887	D	-1.053	T	0.138	T	0.581	0	2.93	0.871	0.007	0.996	0.926	8.372	Tolerated
933	11	47348541	G	C	Pathogenic/Likely pathogenic	MYBPC3	.	.	.	.	.	.	.	.	.	.	11	47348541	47348541	G	C	exonic	MYBPC3	.	synonymous SNV	MYBPC3:NM_000256:exon6:c.G655G:p.V219V	11p11.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
934	11	47348542	G	A	Pathogenic	MYBPC3	.	.	.	.	.	.	.	.	.	.	11	47348542	47348542	G	A	splicing	MYBPC3	NM_000256:exon6:c.655-1C>T	.	.	11p11.2	.	.	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	5.059	25.2	0.994	0.995	D	.	.	.	.	0.057	0	4.81	0.871	0.852	0.991	0.920	17.879	Deleterious (FATHMM)
935	11	47349815	C	T	Pathogenic	MYBPC3	.	.	.	.	.	.	.	.	.	.	11	47349815	47349815	C	T	exonic	MYBPC3	.	nonsynonymous SNV	MYBPC3:NM_000256:exon5:c.C613A:p.Q205K	11p11.2	.	.	1.0	T	0.0	B	0.0	B	.	.	0.728	D	-2.725	N	-0.41	T	1.88	N	0.171	0.637	8.411	0.447	0.708	D	-0.899	T	0.039	T	0.581	0	3.74	-0.045	1.048	0.990	0.999	6.972	Tolerated
936	11	47351294	C	G	Pathogenic	MYBPC3	.	.	.	.	.	.	.	.	.	.	11	47351294	47351294	C	G	exonic	MYBPC3	.	synonymous SNV	MYBPC3:NM_000256:exon2:c.C237C:p.Y79Y	11p11.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
937	11	47351507	A	G	Pathogenic/Likely pathogenic	MYBPC3	.	.	.	.	.	.	.	.	.	.	11	47351507	47351507	A	G	splicing	MYBPC3	NM_000256:exon2:c.26-2T>C	.	.	11p11.2	.	.	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	3.603	23.2	0.984	0.966	D	.	.	.	.	0.074	0	4.27	0.991	1.011	0.947	0.833	8.319	Deleterious (FATHMM)
938	11	61393965	G	T	Pathogenic	TMEM216	.	.	.	.	.	.	.	.	.	.	11	61393965	61393965	G	T	exonic	TMEM216	.	nonsynonymous SNV	TMEM216:NM_001173990:exon3:c.G218T:p.R73L,TMEM216:NM_001173991:exon3:c.G218T:p.R73L,TMEM216:NM_016499:exon3:c.G35T:p.R12L	11q12.2	.	rs201108965	0.004	D	0.989	D	0.865	P	0.000	D	1.000	D	2.845	M	-3.4	D	-6.18	D	0.976	5.891	27.4	0.997	0.916	D	0.766	D	0.860	D	0.732	0	3.12	0.917	1.048	0.800	0.995	8.601	Deleterious
939	11	62702499	A	G	Pathogenic	BSCL2|HNRNPUL2-BSCL2	.	.	.	.	.	.	.	.	.	.	11	62702499	62702499	A	G	exonic	BSCL2	.	nonsynonymous SNV	BSCL2:NM_001122955:exon3:c.A455C:p.N152T,BSCL2:NM_001130702:exon3:c.A263C:p.N88T,BSCL2:NM_032667:exon3:c.A263C:p.N88T	11q12.3	.	.	0.1	T	1.0	D	1.0	D	0.000	U	1.000	D	2.075	M	-2.33	D	-3.9	D	0.533	5.044	25.2	0.996	0.953	D	-0.455	T	0.338	T	0.732	0	5.64	0.991	1.061	1.000	0.998	13.82	Tolerated
940	11	64753556	G	A	Pathogenic/Likely pathogenic	PYGM	.	.	.	.	.	.	.	.	.	.	11	64753556	64753556	G	A	exonic	PYGM	.	nonsynonymous SNV	PYGM:NM_001164716:exon9:c.G1102T:p.V368L,PYGM:NM_005609:exon11:c.G1366T:p.V456L	11q13.1	.	.	0.0	D	0.999	D	0.965	D	0.000	D	1	D	4.335	H	-3.71	D	-2.62	D	0.963	6.508	31	0.998	0.972	D	1.048	D	0.979	D	0.718	0	5.02	0.871	0.919	0.996	0.969	15.876	Deleterious
941	11	64759751	C	T	Pathogenic	PYGM	.	.	.	.	.	.	.	.	.	.	11	64759751	64759751	C	T	exonic	PYGM	.	synonymous SNV	PYGM:NM_001164716:exon1:c.C148A:p.R50R,PYGM:NM_005609:exon1:c.C148A:p.R50R	11q13.1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
942	11	64804738	G	T	Pathogenic	MEN1	.	.	.	.	.	.	.	.	.	.	11	64804738	64804738	G	T	exonic	MEN1	.	nonsynonymous SNV	MEN1:NM_000244:exon10:c.G1444A:p.E482K,MEN1:NM_130799:exon10:c.G1429A:p.E477K,MEN1:NM_130800:exon10:c.G1444A:p.E482K,MEN1:NM_130801:exon10:c.G1444A:p.E482K,MEN1:NM_130802:exon10:c.G1444A:p.E482K,MEN1:NM_130803:exon10:c.G1444A:p.E482K,MEN1:NM_130804:exon11:c.G1444A:p.E482K	11q13.1	.	.	0.295	T	0.997	D	0.989	D	0.000	D	1.000	D	1.01	L	-6.3	D	-1.19	N	0.665	5.121	25.4	0.998	0.974	D	1.067	D	0.966	D	0.722	0	4.54	0.598	0.935	0.161	0.991	13.223	Deleterious
943	11	64804789	C	T	Pathogenic	MEN1	.	.	.	.	.	.	.	.	.	.	11	64804789	64804789	C	T	exonic	MEN1	.	synonymous SNV	MEN1:NM_000244:exon10:c.C1393A:p.R465R,MEN1:NM_130799:exon10:c.C1378A:p.R460R,MEN1:NM_130800:exon10:c.C1393A:p.R465R,MEN1:NM_130801:exon10:c.C1393A:p.R465R,MEN1:NM_130802:exon10:c.C1393A:p.R465R,MEN1:NM_130803:exon10:c.C1393A:p.R465R,MEN1:NM_130804:exon11:c.C1393A:p.R465R	11q13.1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
944	11	64805076	G	T	Pathogenic	MEN1	.	.	.	.	.	.	.	.	.	.	11	64805076	64805076	G	T	exonic	MEN1	.	stopgain	MEN1:NM_000244:exon9:c.G1323A:p.W441X,MEN1:NM_130799:exon9:c.G1308A:p.W436X,MEN1:NM_130800:exon9:c.G1323A:p.W441X,MEN1:NM_130801:exon9:c.G1323A:p.W441X,MEN1:NM_130802:exon9:c.G1323A:p.W441X,MEN1:NM_130803:exon9:c.G1323A:p.W441X,MEN1:NM_130804:exon10:c.G1323A:p.W441X	11q13.1	.	.	.	.	.	.	.	.	0.000	D	1	D	.	.	.	.	.	.	.	12.883	40	0.996	0.936	D	.	.	.	.	0.732	0	4.01	0.033	0.935	0.791	0.999	14.092	Deleterious (FATHMM)
945	11	64805122	G	A	Pathogenic/Likely pathogenic	MEN1	.	.	.	.	.	.	.	.	.	.	11	64805122	64805122	G	A	exonic	MEN1	.	nonsynonymous SNV	MEN1:NM_000244:exon9:c.G1277T:p.C426F,MEN1:NM_130799:exon9:c.G1262T:p.C421F,MEN1:NM_130800:exon9:c.G1277T:p.C426F,MEN1:NM_130801:exon9:c.G1277T:p.C426F,MEN1:NM_130802:exon9:c.G1277T:p.C426F,MEN1:NM_130803:exon9:c.G1277T:p.C426F,MEN1:NM_130804:exon10:c.G1277T:p.C426F	11q13.1	.	.	0.0	D	1.0	D	1.0	D	0.000	D	1	D	2.08	M	-6.49	D	-9.32	D	0.961	6.789	32	0.994	0.987	D	1.016	D	0.984	D	0.732	0	4.01	0.871	0.935	0.991	1.000	14.092	Deleterious
946	11	64805132	G	A	Pathogenic	MEN1	.	.	.	.	.	.	.	.	.	.	11	64805132	64805132	G	A	exonic	MEN1	.	nonsynonymous SNV	MEN1:NM_000244:exon9:c.G1267T:p.D423Y,MEN1:NM_130799:exon9:c.G1252T:p.D418Y,MEN1:NM_130800:exon9:c.G1267T:p.D423Y,MEN1:NM_130801:exon9:c.G1267T:p.D423Y,MEN1:NM_130802:exon9:c.G1267T:p.D423Y,MEN1:NM_130803:exon9:c.G1267T:p.D423Y,MEN1:NM_130804:exon10:c.G1267T:p.D423Y	11q13.1	.	.	0.0	D	1.0	D	1.0	D	0.003	N	1	D	2.11	M	-6.49	D	-7.97	D	0.916	7.201	34	0.995	0.989	D	1.017	D	0.983	D	0.722	0	3.71	0.871	0.935	0.742	1.000	13.454	Deleterious
947	11	64805171	C	T	Pathogenic	MEN1	.	.	.	.	.	.	.	.	.	.	11	64805171	64805171	C	T	exonic	MEN1	.	nonsynonymous SNV	MEN1:NM_000244:exon9:c.C1228A:p.Q410K,MEN1:NM_130799:exon9:c.C1213A:p.Q405K,MEN1:NM_130800:exon9:c.C1228A:p.Q410K,MEN1:NM_130801:exon9:c.C1228A:p.Q410K,MEN1:NM_130802:exon9:c.C1228A:p.Q410K,MEN1:NM_130803:exon9:c.C1228A:p.Q410K,MEN1:NM_130804:exon10:c.C1228A:p.Q410K	11q13.1	.	.	0.525	T	0.149	B	0.154	B	0.000	D	1	D	0.805	L	-5.72	D	0.08	N	0.446	1.594	13.82	0.955	0.993	D	0.933	D	0.902	D	0.722	0	3.71	0.917	1.048	0.781	0.998	13.454	Deleterious
948	11	64807010	G	A	Pathogenic	MEN1	.	.	.	.	.	.	.	.	.	.	11	64807010	64807010	G	A	splicing	MEN1	NM_130804:exon7:c.927+1C>T,NM_130803:exon6:c.927+1C>T,NM_130802:exon6:c.927+1C>T,NM_130801:exon6:c.927+1C>T,NM_130800:exon6:c.927+1C>T,NM_130799:exon6:c.912+1C>T,NM_000244:exon6:c.927+1C>T	.	.	11q13.1	.	.	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	5.334	25.8	0.995	0.991	D	.	.	.	.	0.322	0	4.24	0.598	0.852	0.983	0.967	14.501	Deleterious (FATHMM)
949	11	64807228	G	A	Pathogenic	MEN1	.	.	.	.	.	.	.	.	.	.	11	64807228	64807228	G	A	intronic	MEN1	.	.	.	11q13.1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	probably Tolerated (Intron)
950	11	66211206	C	T	Pathogenic/Likely pathogenic	PACS1	.	.	.	.	.	.	.	.	.	.	11	66211206	66211206	C	T	exonic	PACS1	.	nonsynonymous SNV	PACS1:NM_018026:exon4:c.C607T:p.R203W	11q13.2	.	rs398123009	0.0	D	1.0	D	0.987	D	0.000	D	1	D	2.89	M	1.16	T	-6.85	D	0.969	7.636	35	0.999	0.907	D	-0.524	T	0.250	T	0.706	0	4.79	0.871	0.892	0.995	1.000	12.765	Tolerated
951	11	66526181	T	G	Pathogenic	BBS1|ZDHHC24	.	.	.	.	.	.	.	.	.	.	11	66526181	66526181	T	G	exonic	BBS1	.	nonsynonymous SNV	BBS1:NM_024649:exon12:c.T1169G:p.M390R	11q13.2	0.0020	rs113624356	0.017	D	0.989	D	0.815	P	.	.	1	A	2.075	M	0.45	T	-4.04	D	0.974	6.084	28.2	0.985	0.987	D	0.728	D	0.730	D	0.635	0	4.47	0.673	1.061	0.995	1.000	12.038	Deleterious
952	11	67612225	C	T	Pathogenic	NDUFV1	.	.	.	.	.	.	.	.	.	.	11	67612225	67612225	C	T	exonic	NDUFV1	.	nonsynonymous SNV	NDUFV1:NM_001166102:exon9:c.C1241T:p.T414M,NDUFV1:NM_007103:exon9:c.C1268T:p.T423M	11q13.2	.	rs121913659	0.0	D	1.0	D	0.927	D	0.000	D	1	A	4.015	H	-2.79	D	-5.55	D	0.933	6.126	28.4	0.999	0.963	D	1.061	D	0.901	D	0.707	0	5.16	0.871	0.920	0.996	0.554	17.207	Deleterious
953	11	68780662	C	T	Pathogenic	CPT1A	.	.	.	.	.	.	.	.	.	.	11	68780662	68780662	C	T	exonic	CPT1A	.	nonsynonymous SNV	CPT1A:NM_001031847:exon12:c.C1436A:p.P479Q,CPT1A:NM_001876:exon12:c.C1436A:p.P479Q	11q13.3	.	.	0.0	D	1.0	D	1.0	D	0.000	D	1	D	2.845	M	-2.49	D	-6.6	D	0.904	5.409	26.0	0.990	0.982	D	0.840	D	0.850	D	0.732	0	5.46	0.917	1.048	0.974	0.006	19.317	Deleterious
954	11	68906109	C	T	Pathogenic	IGHMBP2	.	.	.	.	.	.	.	.	.	.	11	68906109	68906109	C	T	exonic	IGHMBP2	.	stopgain	IGHMBP2:NM_002180:exon2:c.C127T:p.R43X	11q13.3	0.0002	rs200089714	.	.	.	.	.	.	0.001	N	1	A	.	.	.	.	.	.	.	10.656	36	0.998	0.696	D	.	.	.	.	0.745	0	2.44	0.871	0.935	0.998	1.000	8.142	Deleterious (FATHMM)
955	11	68933854	C	T	Pathogenic/Likely pathogenic	IGHMBP2	.	.	.	.	.	.	.	.	.	.	11	68933854	68933854	C	T	exonic	IGHMBP2	.	nonsynonymous SNV	IGHMBP2:NM_002180:exon10:c.C1478T:p.T493I	11q13.3	.	rs780594709	0.0	D	0.999	D	0.987	D	0.000	D	1.000	D	2.17	M	-3.01	D	-5.4	D	0.94	5.971	27.7	0.999	0.987	D	0.883	D	0.848	D	0.696	0	4.74	0.871	0.932	0.961	0.316	14.674	Deleterious
956	11	68933864	C	A	Pathogenic	IGHMBP2	.	.	.	.	.	.	.	.	.	.	11	68933864	68933864	C	A	exonic	IGHMBP2	.	stopgain	IGHMBP2:NM_002180:exon10:c.C1488A:p.C496X	11q13.3	0.0002	rs145226920	.	.	.	.	.	.	0.000	D	1	A	.	.	.	.	.	.	.	8.021	35	0.982	0.346	N	.	.	.	.	0.696	0	-5.46	-0.514	-1.468	0.992	0.371	12.540	Deleterious (DANN)
957	11	68934466	G	A	Pathogenic	IGHMBP2	.	.	.	.	.	.	.	.	.	.	11	68934466	68934466	G	A	exonic	IGHMBP2	.	nonsynonymous SNV	IGHMBP2:NM_002180:exon11:c.G1540A:p.E514K	11q13.3	7.7e-05	rs137852665	0.0	D	1.0	D	1.0	D	0.001	N	1	A	4.63	H	-4.39	D	-3.88	D	0.994	7.142	34	0.999	0.986	D	1.061	D	0.974	D	0.778	0	4.94	0.917	0.998	0.835	0.190	16.943	Deleterious
958	11	71435748	G	A	Pathogenic	DHCR7	.	.	.	.	.	.	.	.	.	.	11	71435748	71435748	G	A	exonic	DHCR7	.	nonsynonymous SNV	DHCR7:NM_001163817:exon9:c.G1055T:p.R352L,DHCR7:NM_001360:exon9:c.G1055T:p.R352L	11q13.4	.	rs121909768	0.001	D	1.0	D	0.997	D	0.000	D	1	D	3.565	H	-4.76	D	-6.61	D	0.978	7.689	35	0.955	0.945	D	1.083	D	0.973	D	0.707	0	5.08	0.871	0.935	0.990	0.957	15.943	Deleterious
959	11	71435840	G	C	Pathogenic/Likely pathogenic	DHCR7	.	.	.	.	.	.	.	.	.	.	11	71435840	71435840	G	C	splicing	DHCR7	NM_001360:exon9:c.964-1C>G,NM_001163817:exon9:c.964-1C>G	.	.	11q13.4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.
960	11	71437934	G	A	Pathogenic	DHCR7	.	.	.	.	.	.	.	.	.	.	11	71437934	71437934	G	A	exonic	DHCR7	.	nonsynonymous SNV	DHCR7:NM_001163817:exon8:c.G841T:p.V281L,DHCR7:NM_001360:exon8:c.G841T:p.V281L	11q13.4	.	.	0.022	D	0.997	D	0.964	D	0.000	D	1	D	2.3	M	-4.88	D	-2.5	D	0.831	6.854	33	0.997	0.926	D	1.093	D	0.953	D	0.707	0	4.36	0.871	0.935	0.996	0.996	14.416	Deleterious
961	11	71438986	C	T	Pathogenic	DHCR7	.	.	.	.	.	.	.	.	.	.	11	71438986	71438986	C	T	exonic	DHCR7	.	nonsynonymous SNV	DHCR7:NM_001163817:exon7:c.C724A:p.R242S,DHCR7:NM_001360:exon7:c.C724A:p.R242S	11q13.4	.	.	0.0	D	1.0	D	1.0	D	0.000	D	1	D	3.675	H	-5.6	D	-5.73	D	0.956	7.026	33	0.998	0.986	D	1.024	D	0.985	D	0.707	0	4.44	0.630	0.998	0.759	0.452	15.096	Deleterious
962	11	71441401	G	A	Pathogenic	DHCR7	.	.	.	.	.	.	.	.	.	.	11	71441401	71441401	G	A	exonic	DHCR7	.	nonsynonymous SNV	DHCR7:NM_001163817:exon6:c.G452T:p.W151L,DHCR7:NM_001360:exon6:c.G452T:p.W151L	11q13.4	.	.	0.026	D	0.999	D	0.981	D	0.000	D	1	D	1.055	L	-3.92	D	-9.22	D	0.799	2.809	21.4	0.939	0.942	D	0.899	D	0.895	D	0.707	0	4.14	0.598	0.935	0.942	0.822	14.271	Deleterious
963	11	71444952	A	G	Pathogenic/Likely pathogenic	DHCR7	.	.	.	.	.	.	.	.	.	.	11	71444952	71444952	A	G	exonic	DHCR7	.	nonsynonymous SNV	DHCR7:NM_001163817:exon3:c.A1C:p.M1L,DHCR7:NM_001360:exon3:c.A1C:p.M1L	11q13.4	.	.	0.0	D	0.456	P	0.134	B	0.005	N	1	D	.	.	-2.45	D	-0.6	N	0.899	3.231	22.8	0.948	0.941	D	0.706	D	0.813	D	0.707	0	4.06	0.673	1.061	0.117	0.863	9.969	Deleterious
964	11	77156909	G	A	Pathogenic	MYO7A	.	.	.	.	.	.	.	.	.	.	11	77156909	77156909	G	A	exonic	MYO7A	.	nonsynonymous SNV	MYO7A:NM_000260:exon7:c.G640A:p.G214R,MYO7A:NM_001127179:exon7:c.G640A:p.G214R,MYO7A:NM_001127180:exon7:c.G640A:p.G214R	11q13.5	.	rs111033283	0.0	D	1.0	D	1.0	D	0.000	D	1	D	4.27	H	-3.19	D	-6.92	D	0.994	7.282	34	0.999	0.987	D	1.105	D	0.942	D	0.554	0	5.2	0.913	0.951	0.994	0.995	18.751	Deleterious
965	11	77184688	G	T	Pathogenic/Likely pathogenic	MYO7A	.	.	.	.	.	.	.	.	.	.	11	77184688	77184688	G	T	exonic	MYO7A	.	nonsynonymous SNV	MYO7A:NM_000260:exon27:c.G3476T:p.G1159V,MYO7A:NM_001127179:exon27:c.G3476T:p.G1159V,MYO7A:NM_001127180:exon27:c.G3476T:p.G1159V	11q13.5	.	rs199897298	0.001	D	1.0	D	1.0	D	0.000	D	1	D	3.405	M	-2.72	D	-8.15	D	0.995	6.448	29.8	0.998	0.989	D	1.054	D	0.909	D	0.615	0	5.02	0.917	0.943	0.996	0.997	18.341	Deleterious
966	11	77190108	G	A	Pathogenic	MYO7A	.	.	.	.	.	.	.	.	.	.	11	77190108	77190108	G	A	exonic	MYO7A	.	nonsynonymous SNV	MYO7A:NM_000260:exon29:c.G3719A:p.R1240Q,MYO7A:NM_001127180:exon29:c.G3719A:p.R1240Q	11q13.5	0.0002	rs111033178	0.0	D	1.0	D	1.0	D	0.000	D	1	D	4.48	H	-4.81	D	-3.72	D	0.941	7.370	34	0.999	0.996	D	1.034	D	0.980	D	0.646	0	4.44	0.917	0.988	0.998	0.979	15.307	Deleterious
967	11	77207370	G	T	Pathogenic/Likely pathogenic	MYO7A	.	.	.	.	.	.	.	.	.	.	11	77207370	77207370	G	T	exonic	MYO7A	.	stopgain	MYO7A:NM_000260:exon42:c.G5824T:p.G1942X,MYO7A:NM_001127180:exon42:c.G5710T:p.G1904X	11q13.5	.	rs111033192	.	.	.	.	.	.	0.000	D	1	A	.	.	.	.	.	.	.	15.835	53	0.993	0.989	D	.	.	.	.	0.638	0	5.01	0.913	1.042	0.998	0.987	18.352	Deleterious (FATHMM)
968	11	77208472	C	T	Pathogenic/Likely pathogenic	MYO7A	.	.	.	.	.	.	.	.	.	.	11	77208472	77208472	C	T	exonic	MYO7A	.	stopgain	MYO7A:NM_000260:exon43:c.C5899T:p.R1967X,MYO7A:NM_001127180:exon43:c.C5785T:p.R1929X	11q13.5	8.1e-05	rs376764423	.	.	.	.	.	.	0.000	D	1	A	.	.	.	.	.	.	.	14.558	46	0.998	0.882	D	.	.	.	.	0.554	0	4.29	0.871	0.892	0.998	0.992	10.186	Deleterious (FATHMM)
969	11	89191205	G	T	Pathogenic	TYR	.	.	.	.	.	.	.	.	.	.	11	89191205	89191205	G	T	exonic	TYR	.	nonsynonymous SNV	TYR:NM_000372:exon2:c.G823T:p.V275F	11q14.3	.	rs104894314	0.002	D	0.782	P	0.42	B	0.098	N	0.000	A	1.795	L	-4.36	D	-2.79	D	0.777	3.131	22.6	0.985	0.056	N	0.435	D	0.831	D	0.487	0	-8.22	-0.655	-0.584	0.055	0.459	17.793	Deleterious
970	11	89227816	T	A	Pathogenic/Likely pathogenic, not provided	TYR	.	.	.	.	.	.	.	.	.	.	11	89227816	89227816	T	A	intronic	TYR	.	.	.	11q14.3	0.0008	rs61754381	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	probably Tolerated (Intron)
971	11	89227904	C	A	Pathogenic	TYR	.	.	.	.	.	.	.	.	.	.	11	89227904	89227904	C	A	exonic	TYR	.	nonsynonymous SNV	TYR:NM_000372:exon3:c.C1118A:p.T373K	11q14.3	0.0005	rs61754388	0.001	D	0.001	B	0.004	B	0.000	N	0.993	A	2.635	M	-4.83	D	-3.79	D	0.849	4.959	25.0	0.975	0.974	D	1.021	D	0.915	D	0.487	0	4.45	0.871	0.852	1.000	1.000	15.213	Deleterious
972	11	89284792	C	T	Pathogenic	TYR	.	.	.	.	.	.	.	.	.	.	11	89284792	89284792	C	T	exonic	TYR	.	stopgain	TYR:NM_000372:exon4:c.C1204T:p.R402X	11q14.3	.	rs62645917	.	.	.	.	.	.	0.000	D	1	A	.	.	.	.	.	.	.	15.454	51	0.997	0.868	D	.	.	.	.	0.487	0	4.68	0.871	0.932	0.997	0.999	11.145	Deleterious (FATHMM)
973	11	94447276	C	T	Pathogenic	MRE11A	.	.	.	.	.	.	.	.	.	.	11	94447276	94447276	C	T	exonic	MRE11A	.	synonymous SNV	MRE11A:NM_005590:exon15:c.C1726A:p.R576R,MRE11A:NM_005591:exon15:c.C1726A:p.R576R	11q21	.	rs774277300	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
974	11	94467821	C	T	Pathogenic	MRE11A	.	.	.	.	.	.	.	.	.	.	11	94467821	94467821	C	T	exonic	MRE11A	.	synonymous SNV	MRE11A:NM_005590:exon10:c.C1090A:p.R364R,MRE11A:NM_005591:exon10:c.C1090A:p.R364R	11q21	.	rs371077728	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
975	11	94471572	T	A	Pathogenic	MRE11A	.	.	.	.	.	.	.	.	.	.	11	94471572	94471572	T	A	splicing	MRE11A	NM_005590:exon8:c.845+2A>T,NM_005591:exon8:c.845+2A>T	.	.	11q21	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.
976	11	108138934	A	G	Pathogenic	ACAT1	.	.	.	.	.	.	.	.	.	.	11	108138934	108138934	A	G	exonic	ACAT1	.	nonsynonymous SNV	ACAT1:NM_000019:exon6:c.A472G:p.N158D	11q22.3	7.7e-05	rs148639841	0.005	D	0.931	P	0.716	P	0.000	D	1	D	2.92	M	-2.67	D	-4.4	D	0.435	6.031	28.0	0.997	0.969	D	0.005	D	0.463	T	0.706	0	5.74	1.062	1.176	1.000	0.998	16.043	Tolerated
977	11	108227626	T	C	Pathogenic/Likely pathogenic	ATM	.	.	.	.	.	.	.	.	.	.	11	108227626	108227626	T	C	exonic	ATM	.	nonsynonymous SNV	ATM:NM_000051:exon2:c.T2C:p.M1T	11q22.3	.	rs786203606	0.0	D	0.956	P	0.549	P	0.000	D	1	D	.	.	4.45	T	-1.87	N	0.975	4.960	25.0	0.991	0.978	D	-0.800	T	0.153	T	0.732	0	5.08	0.991	1.061	0.990	1.000	15.148	Tolerated
978	11	108227627	G	A	Pathogenic/Likely pathogenic	ATM	.	.	.	.	.	.	.	.	.	.	11	108227627	108227627	G	A	exonic	ATM	.	nonsynonymous SNV	ATM:NM_000051:exon2:c.G3A:p.M1I	11q22.3	.	rs781404312	0.0	D	0.872	P	0.396	B	0.000	D	1	D	.	.	4.53	T	-1.54	N	0.974	5.865	27.3	0.997	0.965	D	-0.921	T	0.115	T	0.732	0	5.08	0.917	1.048	0.994	1.000	18.841	Tolerated
979	11	108227806	C	T	Pathogenic/Likely pathogenic	ATM	.	.	.	.	.	.	.	.	.	.	11	108227806	108227806	C	T	exonic	ATM	.	stopgain	ATM:NM_000051:exon3:c.C103T:p.R35X	11q22.3	.	rs55861249	.	.	.	.	.	.	0.000	D	1	A	.	.	.	.	.	.	.	11.377	37	0.998	0.932	D	.	.	.	.	0.732	0	5.29	0.871	0.060	0.995	0.996	14.161	Deleterious (FATHMM)
980	11	108227873	G	A	Pathogenic	ATM	.	.	.	.	.	.	.	.	.	.	11	108227873	108227873	G	A	exonic	ATM	.	stopgain	ATM:NM_000051:exon3:c.G170A:p.W57X	11q22.3	.	rs587779818	.	.	.	.	.	.	0.000	D	1	A	.	.	.	.	.	.	.	11.574	37	0.988	0.993	D	.	.	.	.	0.706	0	5.14	0.917	1.048	1.000	1.000	18.966	Deleterious (FATHMM)
981	11	108235839	G	A	Pathogenic/Likely pathogenic	ATM	.	.	.	.	.	.	.	.	.	.	11	108235839	108235839	G	A	intronic	ATM	.	.	.	11q22.3	.	rs796051858	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	1.136	11.41	0.738	0.881	D	.	.	.	.	0.099	0	4.9	0.917	0.998	0.984	0.970	14.298	Deleterious (FATHMM)
982	11	108244867	C	T	Pathogenic	ATM	.	.	.	.	.	.	.	.	.	.	11	108244867	108244867	C	T	exonic	ATM	.	stopgain	ATM:NM_000051:exon7:c.C742T:p.R248X	11q22.3	.	rs730881336	.	.	.	.	.	.	0.000	D	1	A	.	.	.	.	.	.	.	11.010	37	0.997	0.948	D	.	.	.	.	0.732	0	4.6	0.871	0.935	0.955	0.991	15.848	Deleterious (FATHMM)
983	11	108244873	C	T	Pathogenic	ATM	.	.	.	.	.	.	.	.	.	.	11	108244873	108244873	C	T	exonic	ATM	.	stopgain	ATM:NM_000051:exon7:c.C748T:p.R250X	11q22.3	.	rs772821016	.	.	.	.	.	.	0.103	N	1	A	.	.	.	.	.	.	.	9.892	36	0.997	0.889	D	.	.	.	.	0.732	0	3.43	0.871	0.935	0.933	0.938	10.650	Deleterious (FATHMM)
984	11	108244927	C	T	Pathogenic/Likely pathogenic	ATM	.	.	.	.	.	.	.	.	.	.	11	108244927	108244927	C	T	exonic	ATM	.	stopgain	ATM:NM_000051:exon7:c.C802T:p.Q268X	11q22.3	.	rs557012154	.	.	.	.	.	.	0.002	N	1	A	.	.	.	.	.	.	.	10.739	36	0.998	0.911	D	.	.	.	.	0.732	0	5.33	0.871	0.935	1.000	1.000	14.249	Deleterious (FATHMM)
985	11	108244954	G	T	Pathogenic/Likely pathogenic	ATM	.	.	.	.	.	.	.	.	.	.	11	108244954	108244954	G	T	exonic	ATM	.	stopgain	ATM:NM_000051:exon7:c.G829T:p.E277X	11q22.3	.	.	.	.	.	.	.	.	0.000	D	1	A	.	.	.	.	.	.	.	12.293	39	0.997	0.993	D	.	.	.	.	0.707	0	5.33	0.917	1.048	0.999	1.000	19.381	Deleterious (FATHMM)
986	11	108245027	G	A	Pathogenic	ATM	.	.	.	.	.	.	.	.	.	.	11	108245027	108245027	G	A	splicing	ATM	NM_000051:exon7:c.901+1G>A	.	.	11q22.3	.	rs748840480	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	4.762	24.7	0.991	0.990	D	.	.	.	.	0.295	0	5.15	0.917	0.953	0.970	0.974	12.372	Deleterious (FATHMM)
987	11	108248977	C	G	Pathogenic	ATM	.	.	.	.	.	.	.	.	.	.	11	108248977	108248977	C	G	exonic	ATM	.	stopgain	ATM:NM_000051:exon9:c.C1110G:p.Y370X	11q22.3	.	rs376170600	.	.	.	.	.	.	0.012	N	1	A	.	.	.	.	.	.	.	3.133	22.6	0.906	0.155	N	.	.	.	.	0.563	0	-7.76	-1.741	-1.295	0.724	0.027	20.640
988	11	108250804	C	T	Pathogenic/Likely pathogenic	ATM	.	.	.	.	.	.	.	.	.	.	11	108250804	108250804	C	T	exonic	ATM	.	stopgain	ATM:NM_000051:exon10:c.C1339T:p.R447X	11q22.3	.	rs587779815	.	.	.	.	.	.	0.000	D	1	A	.	.	.	.	.	.	.	12.268	39	0.998	0.963	D	.	.	.	.	0.732	0	6.08	0.871	0.892	0.981	0.996	15.396	Deleterious (FATHMM)
989	11	108251073	G	T	Pathogenic	ATM	.	.	.	.	.	.	.	.	.	.	11	108251073	108251073	G	T	splicing	ATM	NM_000051:exon10:c.1607+1G>T	.	.	11q22.3	.	rs772926890	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	5.235	25.6	0.994	0.998	D	.	.	.	.	0.295	0	6.17	0.917	1.048	0.855	0.949	20.879	Deleterious (FATHMM)
990	11	108252914	T	G	Pathogenic	ATM	.	.	.	.	.	.	.	.	.	.	11	108252914	108252914	T	G	splicing	ATM	NM_000051:exon12:c.1898+2T>G	.	.	11q22.3	.	rs587782124	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	5.012	25.1	0.985	0.994	D	.	.	.	.	0.106	0	5.75	0.991	1.011	0.997	0.998	16.066	Deleterious (FATHMM)
991	11	108253938	C	T	Pathogenic/Likely pathogenic	ATM	.	.	.	.	.	.	.	.	.	.	11	108253938	108253938	C	T	exonic	ATM	.	stopgain	ATM:NM_000051:exon13:c.C2023T:p.Q675X	11q22.3	.	rs777849257	.	.	.	.	.	.	0.573	N	1	A	.	.	.	.	.	.	.	6.901	33	0.994	0.075	N	.	.	.	.	0.707	0	5.19	0.871	0.935	0.008	0.005	10.359	Deleterious (DANN)
992	11	108254013	C	T	Pathogenic/Likely pathogenic	ATM	.	.	.	.	.	.	.	.	.	.	11	108254013	108254013	C	T	exonic	ATM	.	stopgain	ATM:NM_000051:exon13:c.C2098T:p.Q700X	11q22.3	.	rs786202743	.	.	.	.	.	.	0.031	N	1	A	.	.	.	.	.	.	.	10.265	36	0.996	0.820	D	.	.	.	.	0.707	0	5.19	0.871	0.935	0.996	0.986	12.371	Deleterious (FATHMM)
993	11	108257471	T	G	Pathogenic/Likely pathogenic	ATM	.	.	.	.	.	.	.	.	.	.	11	108257471	108257471	T	G	intronic	ATM	.	.	.	11q22.3	.	rs730881346	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	probably Tolerated (Intron)
994	11	108259022	C	T	Pathogenic	ATM	.	.	.	.	.	.	.	.	.	.	11	108259022	108259022	C	T	exonic	ATM	.	stopgain	ATM:NM_000051:exon16:c.C2413T:p.R805X	11q22.3	.	rs780619951	.	.	.	.	.	.	0.004	N	1	A	.	.	.	.	.	.	.	9.080	35	0.996	0.424	N	.	.	.	.	0.732	0	2.87	-0.006	0.068	0.988	0.857	15.183	Deleterious (DANN)
995	11	108259035	C	A	Pathogenic	ATM	.	.	.	.	.	.	.	.	.	.	11	108259035	108259035	C	A	exonic	ATM	.	stopgain	ATM:NM_000051:exon16:c.C2426A:p.S809X	11q22.3	.	rs730881348	.	.	.	.	.	.	0.001	D	1	A	.	.	.	.	.	.	.	11.603	37	0.995	0.975	D	.	.	.	.	0.732	0	5.8	0.871	0.935	0.998	0.997	20.071	Deleterious (FATHMM)
996	11	108267344	T	C	Pathogenic/Likely pathogenic	ATM	.	.	.	.	.	.	.	.	.	.	11	108267344	108267344	T	C	splicing	ATM	NM_000051:exon17:c.2638+2T>C	.	.	11q22.3	.	rs587779826	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	3.792	23.4	0.959	0.946	D	.	.	.	.	0.106	0	4.89	0.673	1.011	0.414	0.753	13.628	Deleterious (FATHMM)
997	11	108271147	G	C	Pathogenic/Likely pathogenic	ATM	.	.	.	.	.	.	.	.	.	.	11	108271147	108271147	G	C	splicing	ATM	NM_000051:exon19:c.2921+1G>C	.	.	11q22.3	.	rs587781558	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	5.471	26.2	0.994	0.992	D	.	.	.	.	0.322	0	5.73	0.917	1.048	1.000	1.000	20.270	Deleterious (FATHMM)
998	11	108271147	G	T	Pathogenic/Likely pathogenic	ATM	.	.	.	.	.	.	.	.	.	.	11	108271147	108271147	G	T	splicing	ATM	NM_000051:exon19:c.2921+1G>T	.	.	11q22.3	.	rs587781558	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	5.571	26.4	0.994	0.991	D	.	.	.	.	0.322	0	5.73	0.917	1.048	1.000	1.000	20.270	Deleterious (FATHMM)
999	11	108271147	G	A	Pathogenic/Likely pathogenic	ATM	.	.	.	.	.	.	.	.	.	.	11	108271147	108271147	G	A	splicing	ATM	NM_000051:exon19:c.2921+1G>A	.	.	11q22.3	.	rs587781558	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	5.815	27.2	0.994	0.990	D	.	.	.	.	0.322	0	5.73	0.917	1.048	1.000	1.000	20.270	Deleterious (FATHMM)
1000	11	108271378	C	T	Pathogenic	ATM	.	.	.	.	.	.	.	.	.	.	11	108271378	108271378	C	T	exonic	ATM	.	stopgain	ATM:NM_000051:exon20:c.C3049T:p.Q1017X	11q22.3	.	rs730881388	.	.	.	.	.	.	0.113	N	1	A	.	.	.	.	.	.	.	11.504	37	0.997	0.911	D	.	.	.	.	0.707	0	5.8	0.871	0.070	0.999	0.956	14.232	Deleterious (FATHMM)
1001	11	108272720	A	G	Pathogenic	ATM	.	.	.	.	.	.	.	.	.	.	11	108272720	108272720	A	G	splicing	ATM	NM_000051:exon22:c.3154-2A>G	.	.	11q22.3	.	rs730881357	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	3.901	23.5	0.988	0.985	D	.	.	.	.	0.156	0	5.63	1.062	1.199	0.824	0.655	16.138	Deleterious (FATHMM)
1002	11	108279510	G	T	Pathogenic	ATM	.	.	.	.	.	.	.	.	.	.	11	108279510	108279510	G	T	exonic	ATM	.	stopgain	ATM:NM_000051:exon23:c.G3304T:p.G1102X	11q22.3	.	rs147557621	.	.	.	.	.	.	0.664	N	1	A	.	.	.	.	.	.	.	7.936	35	0.901	0.193	N	.	.	.	.	0.732	0	-0.183	0.913	-0.319	0.026	0.372	5.345
1003	11	108279578	C	G	Pathogenic/Likely pathogenic	ATM	.	.	.	.	.	.	.	.	.	.	11	108279578	108279578	C	G	exonic	ATM	.	stopgain	ATM:NM_000051:exon23:c.C3372G:p.Y1124X	11q22.3	.	rs587779833	.	.	.	.	.	.	0.000	D	1	A	.	.	.	.	.	.	.	9.958	36	0.996	0.872	D	.	.	.	.	0.732	0	2.43	0.031	0.890	0.959	0.885	12.545	Deleterious (FATHMM)
1004	11	108281168	G	A	Pathogenic	ATM	.	.	.	.	.	.	.	.	.	.	11	108281168	108281168	G	A	exonic	ATM	.	synonymous SNV	ATM:NM_000051:exon24:c.G3576A:p.K1192K	11q22.3	.	rs587776551	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
1005	11	108282796	G	A	Pathogenic	ATM	.	.	.	.	.	.	.	.	.	.	11	108282796	108282796	G	A	exonic	ATM	.	stopgain	ATM:NM_000051:exon25:c.G3663A:p.W1221X	11q22.3	.	rs864622490	.	.	.	.	.	.	0.000	D	1	A	.	.	.	.	.	.	.	13.057	41	0.994	0.987	D	.	.	.	.	0.732	0	5.38	0.917	0.998	0.997	1.000	19.123	Deleterious (FATHMM)
1006	11	108284316	G	A	Pathogenic	ATM	.	.	.	.	.	.	.	.	.	.	11	108284316	108284316	G	A	exonic	ATM	.	stopgain	ATM:NM_000051:exon26:c.G3836A:p.W1279X	11q22.3	.	rs587779836	.	.	.	.	.	.	0.000	D	1	A	.	.	.	.	.	.	.	12.805	40	0.993	0.992	D	.	.	.	.	0.707	0	5.68	0.917	1.048	0.979	0.989	19.791	Deleterious (FATHMM)
1007	11	108284474	G	A	Pathogenic	ATM	.	.	.	.	.	.	.	.	.	.	11	108284474	108284474	G	A	splicing	ATM	NM_000051:exon26:c.3993+1G>A	.	.	11q22.3	.	rs200196781	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	5.471	26.2	0.991	0.998	D	.	.	.	.	0.295	0	5.43	0.917	1.048	0.993	0.949	19.230	Deleterious (FATHMM)
1008	11	108287598	A	G	Pathogenic/Likely pathogenic	ATM	.	.	.	.	.	.	.	.	.	.	11	108287598	108287598	A	G	splicing	ATM	NM_000051:exon27:c.3994-2A>G	.	.	11q22.3	.	rs587782276	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	5.124	25.4	0.986	0.974	D	.	.	.	.	0.322	0	6.06	1.062	1.199	0.998	0.989	12.247	Deleterious (FATHMM)
1009	11	108289065	A	T	Pathogenic	ATM	.	.	.	.	.	.	.	.	.	.	11	108289065	108289065	A	T	exonic	ATM	.	stopgain	ATM:NM_000051:exon28:c.A4198T:p.K1400X	11q22.3	.	rs587781950	.	.	.	.	.	.	0.000	D	1	A	.	.	.	.	.	.	.	12.245	39	0.994	0.940	D	.	.	.	.	0.707	0	5.36	1.062	1.194	0.999	0.989	11.355	Deleterious (FATHMM)
1010	11	108293436	C	T	Pathogenic/Likely pathogenic	ATM	.	.	.	.	.	.	.	.	.	.	11	108293436	108293436	C	T	exonic	ATM	.	stopgain	ATM:NM_000051:exon31:c.C4735T:p.Q1579X	11q22.3	.	.	.	.	.	.	.	.	0.001	D	1	A	.	.	.	.	.	.	.	12.698	40	0.998	0.947	D	.	.	.	.	0.732	0	5.31	0.871	0.935	0.998	1.000	19.335	Deleterious (FATHMM)
1011	11	108293479	T	C	Pathogenic	ATM	.	.	.	.	.	.	.	.	.	.	11	108293479	108293479	T	C	splicing	ATM	NM_000051:exon31:c.4776+2T>C	.	.	11q22.3	.	rs587781927	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	4.962	25.0	0.989	0.982	D	.	.	.	.	0.156	0	5.31	0.991	1.061	0.994	0.999	15.553	Deleterious (FATHMM)
1012	11	108301658	C	T	Pathogenic/Likely pathogenic	ATM	.	.	.	.	.	.	.	.	.	.	11	108301658	108301658	C	T	exonic	ATM	.	stopgain	ATM:NM_000051:exon35:c.C5188T:p.R1730X	11q22.3	.	rs764389018	.	.	.	.	.	.	0.000	D	1	A	.	.	.	.	.	.	.	13.317	41	0.997	0.851	D	.	.	.	.	0.745	0	3.95	0.871	0.892	0.998	0.998	12.809	Deleterious (FATHMM)
1013	11	108304822	C	T	Pathogenic/Likely pathogenic	ATM	.	.	.	.	.	.	.	.	.	.	11	108304822	108304822	C	T	exonic	ATM	.	stopgain	ATM:NM_000051:exon37:c.C5644T:p.R1882X	11q22.3	.	rs786204433	.	.	.	.	.	.	0.000	D	1	A	.	.	.	.	.	.	.	11.835	38	0.997	0.913	D	.	.	.	.	0.732	0	3.59	0.871	0.892	0.988	0.843	13.771	Deleterious (FATHMM)
1014	11	108310287	A	T	Pathogenic/Likely pathogenic	ATM|C11orf65	.	.	.	.	.	.	.	.	.	.	11	108310287	108310287	A	T	exonic	ATM	.	stopgain	ATM:NM_000051:exon39:c.A5890T:p.K1964X	11q22.3	.	rs201963507	.	.	.	.	.	.	0.000	D	1	D	.	.	.	.	.	.	.	14.240	45	0.995	0.989	D	.	.	.	.	0.732	0	4.57	1.062	1.088	0.998	0.997	12.690	Deleterious (FATHMM)
1015	11	108310305	C	T	Pathogenic	ATM|C11orf65	.	.	.	.	.	.	.	.	.	.	11	108310305	108310305	C	T	exonic	ATM	.	stopgain	ATM:NM_000051:exon39:c.C5908T:p.Q1970X	11q22.3	.	rs587781722	.	.	.	.	.	.	0.000	D	1	D	.	.	.	.	.	.	.	13.136	41	0.996	0.960	D	.	.	.	.	0.732	0	4.68	0.791	0.768	0.976	0.986	14.995	Deleterious (FATHMM)
1016	11	108312424	G	T	Pathogenic	ATM|C11orf65	.	.	.	.	.	.	.	.	.	.	11	108312424	108312424	G	T	exonic	ATM	.	stopgain	ATM:NM_000051:exon40:c.G5932T:p.E1978X	11q22.3	.	rs587779852	.	.	.	.	.	.	0.000	D	1	D	.	.	.	.	.	.	.	15.852	53	0.998	0.991	D	.	.	.	.	0.732	0	5.33	0.917	0.953	0.998	0.998	19.378	Deleterious (FATHMM)
1017	11	108315911	G	A	Pathogenic/Likely pathogenic	ATM|C11orf65	.	.	.	.	.	.	.	.	.	.	11	108315911	108315911	G	A	exonic	ATM	.	nonsynonymous SNV	ATM:NM_000051:exon41:c.G6095A:p.R2032K	11q22.3	7.7e-05	rs139770721	0.018	D	0.994	D	0.856	P	0.000	D	1	D	2.28	M	4.83	T	-2.61	D	0.863	5.473	26.2	0.996	0.993	D	-1.120	T	0.022	T	0.707	0	5.33	0.917	0.998	0.845	0.988	17.196	Tolerated
1018	11	108316015	C	T	Pathogenic/Likely pathogenic	ATM|C11orf65	.	.	.	.	.	.	.	.	.	.	11	108316015	108316015	C	T	exonic	ATM	.	stopgain	ATM:NM_000051:exon42:c.C6100T:p.R2034X	11q22.3	.	rs532480170	.	.	.	.	.	.	0.000	D	1	D	.	.	.	.	.	.	.	10.638	36	0.992	0.824	D	.	.	.	.	0.707	0	-1.25	-0.782	0.807	0.183	0.951	15.630	Deleterious (FATHMM)
1019	11	108321421	G	A	Pathogenic/Likely pathogenic	ATM|C11orf65	.	.	.	.	.	.	.	.	.	.	11	108321421	108321421	G	A	splicing	ATM	NM_000051:exon45:c.6572+1G>A	.	.	11q22.3	.	rs587779856	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	5.942	27.6	0.995	0.992	D	.	.	.	.	0.295	0	5.79	0.917	0.998	0.844	0.957	20.090	Deleterious (FATHMM)
1020	11	108325416	C	T	Pathogenic/Likely pathogenic	ATM|C11orf65	.	.	.	.	.	.	.	.	.	.	11	108325416	108325416	C	T	exonic	ATM	.	nonsynonymous SNV	ATM:NM_000051:exon46:c.C6679T:p.R2227C	11q22.3	.	rs564652222	0.0	D	1.0	D	0.999	D	0.000	D	1	D	2.32	M	-2.41	D	-7.68	D	0.992	8.262	35	0.999	0.980	D	0.803	D	0.819	D	0.732	0	5.03	0.871	0.935	0.982	0.992	18.733	Deleterious
1021	11	108329027	G	T	Pathogenic/Likely pathogenic	ATM|C11orf65	.	.	.	.	.	.	.	.	.	.	11	108329027	108329027	G	T	exonic	ATM	.	stopgain	ATM:NM_000051:exon49:c.G7096T:p.E2366X	11q22.3	.	rs587781672	.	.	.	.	.	.	0.000	D	1	D	.	.	.	.	.	.	.	13.392	42	0.996	0.983	D	.	.	.	.	0.732	0	2.74	0.034	-0.197	0.995	0.989	8.345	Deleterious (FATHMM)
1022	11	108329202	T	G	Pathogenic, risk factor	ATM|C11orf65	.	.	.	.	.	.	.	.	.	.	11	108329202	108329202	T	G	exonic	ATM	.	nonsynonymous SNV	ATM:NM_000051:exon49:c.T7271G:p.V2424G	11q22.3	7.7e-05	rs28904921	0.001	D	1.0	D	0.996	D	0.000	D	1	A	2.19	M	-0.81	T	-4.76	D	0.961	6.174	28.6	0.997	0.988	D	0.211	D	0.568	D	0.732	0	5.54	0.991	1.061	0.998	1.000	15.684	Deleterious
1023	11	108330233	C	T	Pathogenic/Likely pathogenic	ATM|C11orf65	.	.	.	.	.	.	.	.	.	.	11	108330233	108330233	C	T	exonic	ATM	.	stopgain	ATM:NM_000051:exon50:c.C7327T:p.R2443X	11q22.3	.	rs121434220	.	.	.	.	.	.	0.000	D	1	A	.	.	.	.	.	.	.	13.905	43	0.992	0.948	D	.	.	.	.	0.707	0	-0.194	-0.782	0.852	0.993	0.997	14.731	Deleterious (FATHMM)
1024	11	108330362	C	T	Pathogenic	ATM|C11orf65	.	.	.	.	.	.	.	.	.	.	11	108330362	108330362	C	T	exonic	ATM	.	stopgain	ATM:NM_000051:exon50:c.C7456T:p.R2486X	11q22.3	.	rs587779865	.	.	.	.	.	.	0.000	D	1	D	.	.	.	.	.	.	.	14.283	45	0.997	0.935	D	.	.	.	.	0.719	0	4.7	0.871	0.852	0.997	0.796	16.976	Deleterious (FATHMM)
1025	11	108331877	A	C	Pathogenic	ATM|C11orf65	.	.	.	.	.	.	.	.	.	.	11	108331877	108331877	A	C	splicing	ATM	NM_000051:exon52:c.7630-2A>C	.	.	11q22.3	.	rs587779866	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	4.377	24.1	0.992	0.982	D	.	.	.	.	0.295	0	5.32	1.062	1.076	0.941	0.971	15.296	Deleterious (FATHMM)
1026	11	108332037	G	A	Pathogenic	ATM|C11orf65	.	.	.	.	.	.	.	.	.	.	11	108332037	108332037	G	A	exonic	ATM	.	synonymous SNV	ATM:NM_000051:exon52:c.G7788A:p.E2596E	11q22.3	.	rs587780639	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
1027	11	108332886	G	A	Pathogenic/Likely pathogenic	ATM|C11orf65	.	.	.	.	.	.	.	.	.	.	11	108332886	108332886	G	A	exonic	ATM	.	stopgain	ATM:NM_000051:exon53:c.G7913A:p.W2638X	11q22.3	7.7e-05	rs377349459	.	.	.	.	.	.	0.000	D	1	D	.	.	.	.	.	.	.	14.874	48	0.985	0.947	D	.	.	.	.	0.732	0	5.09	0.917	0.953	0.996	0.998	18.864	Deleterious (FATHMM)
1028	11	108335104	G	T	Pathogenic/Likely pathogenic	ATM|C11orf65	.	.	.	.	.	.	.	.	.	.	11	108335104	108335104	G	T	exonic	ATM	.	nonsynonymous SNV	ATM:NM_000051:exon55:c.G8146T:p.V2716F	11q22.3	.	rs730881385	0.0	D	1.0	D	1.0	D	0.000	D	1	D	1.295	L	-2.38	D	-3.85	D	0.838	6.256	28.9	0.996	0.987	D	0.453	D	0.753	D	0.732	0	5.67	0.917	1.048	0.986	0.967	19.777	Deleterious
1029	11	108335105	T	C	Pathogenic/Likely pathogenic	ATM|C11orf65	.	.	.	.	.	.	.	.	.	.	11	108335105	108335105	T	C	exonic	ATM	.	nonsynonymous SNV	ATM:NM_000051:exon55:c.T8147C:p.V2716A	11q22.3	.	rs587782652	0.0	D	0.994	D	0.993	D	0.000	D	1	D	1.925	M	-2.35	D	-3.39	D	0.951	5.487	26.2	0.999	0.984	D	0.717	D	0.789	D	0.732	0	5.67	0.991	1.061	0.978	0.958	15.919	Deleterious
1030	11	108335959	A	T	Pathogenic/Likely pathogenic	ATM|C11orf65	.	.	.	.	.	.	.	.	.	.	11	108335959	108335959	A	T	exonic	ATM	.	stopgain	ATM:NM_000051:exon56:c.A8266T:p.K2756X	11q22.3	7.7e-05	rs371638537	.	.	.	.	.	.	0.000	D	1	D	.	.	.	.	.	.	.	16.102	54	0.995	0.990	D	.	.	.	.	0.707	0	5.56	1.062	1.199	0.930	0.906	15.704	Deleterious (FATHMM)
1031	11	108343246	G	A	Pathogenic/Likely pathogenic	ATM|C11orf65	.	.	.	.	.	.	.	.	.	.	11	108343246	108343246	G	A	exonic	ATM	.	nonsynonymous SNV	ATM:NM_000051:exon57:c.G8293A:p.G2765S	11q22.3	.	rs748634900	0.0	D	1.0	D	1.0	D	0.000	D	1	D	3.98	H	-1.52	D	-5.17	D	0.983	6.903	33	0.998	0.992	D	0.858	D	0.807	D	0.732	0	5.56	0.917	1.048	0.997	1.000	19.879	Deleterious
1032	11	108343260	G	A	Pathogenic/Likely pathogenic	ATM|C11orf65	.	.	.	.	.	.	.	.	.	.	11	108343260	108343260	G	A	exonic	ATM	.	stopgain	ATM:NM_000051:exon57:c.G8307A:p.W2769X	11q22.3	.	rs778269655	.	.	.	.	.	.	0.000	D	1	D	.	.	.	.	.	.	.	15.492	51	0.995	0.992	D	.	.	.	.	0.732	0	5.56	0.917	1.048	0.998	1.000	19.879	Deleterious (FATHMM)
1033	11	108345818	C	T	Pathogenic/Likely pathogenic	ATM|C11orf65	.	.	.	.	.	.	.	.	.	.	11	108345818	108345818	C	T	exonic	ATM	.	nonsynonymous SNV	ATM:NM_000051:exon58:c.C8494T:p.R2832C	11q22.3	.	rs587779872	0.001	D	1.0	D	0.994	D	0.000	D	1	D	3.025	M	-1.0	T	-4.76	D	0.978	7.960	35	0.999	0.907	D	0.458	D	0.656	D	0.732	0	5.45	0.871	0.848	1.000	1.000	19.287	Deleterious
1034	11	108353881	G	C	Pathogenic	ATM|C11orf65	.	.	.	.	.	.	.	.	.	.	11	108353881	108353881	G	C	splicing	ATM	NM_000051:exon60:c.8786+1G>C	.	.	11q22.3	.	rs17174393	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	4.975	25.1	0.994	0.996	D	.	.	.	.	0.295	0	5.42	0.917	0.953	0.971	0.907	19.213	Deleterious (FATHMM)
1035	11	108353881	G	A	Pathogenic/Likely pathogenic	ATM|C11orf65	.	.	.	.	.	.	.	.	.	.	11	108353881	108353881	G	A	splicing	ATM	NM_000051:exon60:c.8786+1G>A	.	.	11q22.3	.	rs17174393	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	5.509	26.3	0.994	0.995	D	.	.	.	.	0.295	0	5.42	0.917	0.953	0.971	0.907	19.213	Deleterious (FATHMM)
1036	11	108365208	C	T	Pathogenic/Likely pathogenic	ATM|C11orf65	.	.	.	.	.	.	.	.	.	.	11	108365208	108365208	C	T	exonic	ATM	.	stopgain	ATM:NM_000051:exon62:c.C8977T:p.R2993X	11q22.3	.	rs770641163	.	.	.	.	.	.	0.012	N	1	D	.	.	.	.	.	.	.	14.610	47	0.989	0.969	D	.	.	.	.	0.706	0	3.44	-0.058	-0.489	0.866	0.610	9.694	Deleterious (FATHMM)
1037	11	108365356	G	T	Pathogenic/Likely pathogenic	ATM|C11orf65	.	.	.	.	.	.	.	.	.	.	11	108365356	108365356	G	T	exonic	ATM	.	stopgain	ATM:NM_000051:exon63:c.G9019T:p.E3007X	11q22.3	.	.	.	.	.	.	.	.	0.000	D	1	D	.	.	.	.	.	.	.	15.749	52	0.996	0.994	D	.	.	.	.	0.706	0	5.22	0.917	0.953	0.993	0.943	19.035	Deleterious (FATHMM)
1038	11	108365359	C	T	Pathogenic/Likely pathogenic	ATM|C11orf65	.	.	.	.	.	.	.	.	.	.	11	108365359	108365359	C	T	exonic	ATM	.	nonsynonymous SNV	ATM:NM_000051:exon63:c.C9022T:p.R3008C	11q22.3	.	rs587782292	0.001	D	1.0	D	0.988	D	0.000	D	1	D	2.545	M	4.35	T	-6.32	D	0.963	7.496	34	0.999	0.979	D	-1.211	T	0.035	T	0.706	0	5.22	0.871	0.852	0.981	0.899	19.035	Tolerated
1039	11	112088939	C	T	Pathogenic	SDHD	.	.	.	.	.	.	.	.	.	.	11	112088939	112088939	C	T	exonic	SDHD	.	nonsynonymous SNV	SDHD:NM_001276504:exon2:c.C125T:p.P42L,SDHD:NM_001276506:exon3:c.C242T:p.P81L,SDHD:NM_003002:exon3:c.C242T:p.P81L	11q23.1	.	rs80338844	0.045	D	0.997	D	0.751	P	0.000	D	1	A	3.41	M	-4.32	D	-8.54	D	0.968	7.324	34	0.996	0.976	D	1.096	D	0.964	D	0.707	0	5.04	-0.011	-0.014	0.633	0.838	18.375	Deleterious
1040	11	112094831	A	G	Pathogenic	SDHD	.	.	.	.	.	.	.	.	.	.	11	112094831	112094831	A	G	exonic	SDHD	.	nonsynonymous SNV	SDHD:NM_001276503:exon3:c.A196G:p.M66V,SDHD:NM_001276504:exon3:c.A224G:p.Y75C,SDHD:NM_003002:exon4:c.A341G:p.Y114C	11q23.1	.	rs104894304	0.022	D	0.964	D	0.844	P	0.000	D	1	A	2.51	M	-6.69	D	-7.31	D	0.997	5.021	25.2	0.951	0.984	D	1.001	D	0.987	D	0.707	0	4.85	1.062	1.194	0.970	0.996	14.585	Deleterious
1041	11	119026979	C	T	Pathogenic/Likely pathogenic	SLC37A4	.	.	.	.	.	.	.	.	.	.	11	119026979	119026979	C	T	exonic	SLC37A4	.	nonsynonymous SNV	SLC37A4:NM_001164280:exon5:c.C742A:p.Q248K,SLC37A4:NM_001467:exon6:c.C742A:p.Q248K,SLC37A4:NM_001164277:exon7:c.C742A:p.Q248K,SLC37A4:NM_001164278:exon7:c.C742A:p.Q248K,SLC37A4:NM_001164279:exon7:c.C523A:p.Q175K	11q23.3	.	.	.	.	0.853	P	0.574	P	.	.	.	.	2.215	M	.	.	.	.	0.898	6.031	28.0	0.929	0.981	D	.	.	.	.	0.257	0	4.71	0.917	0.943	1.000	1.000	17.852	Deleterious (FATHMM)
1042	11	119278165	G	T	Pathogenic	CBL	.	.	.	.	.	.	.	.	.	.	11	119278165	119278165	G	T	splicing	CBL	NM_005188:exon8:c.1096-1G>T	.	.	11q23.3	.	rs397517076	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	5.489	26.2	0.995	0.995	D	.	.	.	.	0.156	0	5.65	0.917	1.048	0.947	0.978	20.106	Deleterious (FATHMM)
1043	11	119278170	A	C	Pathogenic	CBL	.	.	.	.	.	.	.	.	.	.	11	119278170	119278170	A	C	exonic	CBL	.	nonsynonymous SNV	CBL:NM_005188:exon8:c.A1100C:p.Q367P	11q23.3	.	rs267606704	0.001	D	0.998	D	0.997	D	0.000	D	1	D	2.325	M	-3.8	D	-5.62	D	0.957	3.355	22.9	0.992	0.990	D	0.998	D	0.909	D	0.707	0	4.51	1.062	1.199	1.000	1.000	13.162	Deleterious
1044	11	119278508	A	G	Pathogenic/Likely pathogenic	CBL	.	.	.	.	.	.	.	.	.	.	11	119278508	119278508	A	G	splicing	CBL	NM_005188:exon9:c.1228-2A>G	.	.	11q23.3	.	rs727504426	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	5.272	25.7	0.995	0.994	D	.	.	.	.	0.156	0	5.83	1.062	1.199	0.981	0.983	16.215	Deleterious (FATHMM)
1045	11	134262556	G	A	Pathogenic/Likely pathogenic	ACAD8	.	.	.	.	.	.	.	.	.	.	11	134262556	134262556	G	A	exonic	ACAD8	.	nonsynonymous SNV	ACAD8:NM_014384:exon10:c.G1129A:p.G377S	11q25	0.0002	rs121908419	0.0	D	1.0	D	1.0	D	0.000	D	1	A	3.81	H	-5.38	D	-5.59	D	0.996	7.794	35	0.999	0.981	D	1.039	D	0.985	D	0.707	0	5.75	0.917	0.953	0.999	0.988	19.952	Deleterious
1046	12	2504538	G	C	Pathogenic	CACNA1C	.	.	.	.	.	.	.	.	.	.	12	2504538	2504538	G	C	exonic	CACNA1C	.	nonsynonymous SNV	CACNA1C:NM_001129840:exon8:c.G1216C:p.G406R,CACNA1C:NM_001167623:exon8:c.G1216C:p.G406R,CACNA1C:NM_001167624:exon8:c.G1216C:p.G406R,CACNA1C:NM_001167625:exon8:c.G1216C:p.G406R	12p13.33	.	rs786205745	0.005	D	1.0	D	1.0	D	0.000	D	1	D	2.865	M	-4.38	D	-6.8	D	0.835	2.040	16.46	0.999	0.989	D	1.097	D	0.953	D	0.487	0	4.94	0.917	1.048	1.000	1.000	18.362	Deleterious
1047	12	2504944	G	A	Pathogenic	CACNA1C	.	.	.	.	.	.	.	.	.	.	12	2504944	2504944	G	A	exonic	CACNA1C	.	nonsynonymous SNV	CACNA1C:NM_000719:exon8:c.G1216A:p.G406R,CACNA1C:NM_001129827:exon8:c.G1216A:p.G406R,CACNA1C:NM_001129829:exon8:c.G1216A:p.G406R,CACNA1C:NM_001129830:exon8:c.G1216A:p.G406R,CACNA1C:NM_001129831:exon8:c.G1216A:p.G406R,CACNA1C:NM_001129832:exon8:c.G1216A:p.G406R,CACNA1C:NM_001129833:exon8:c.G1216A:p.G406R,CACNA1C:NM_001129834:exon8:c.G1216A:p.G406R,CACNA1C:NM_001129835:exon8:c.G1216A:p.G406R,CACNA1C:NM_001129836:exon8:c.G1216A:p.G406R,CACNA1C:NM_001129837:exon8:c.G1216A:p.G406R,CACNA1C:NM_001129838:exon8:c.G1216A:p.G406R,CACNA1C:NM_001129839:exon8:c.G1216A:p.G406R,CACNA1C:NM_001129841:exon8:c.G1216A:p.G406R,CACNA1C:NM_001129842:exon8:c.G1216A:p.G406R,CACNA1C:NM_001129843:exon8:c.G1216A:p.G406R,CACNA1C:NM_001129844:exon8:c.G1207A:p.G403R,CACNA1C:NM_001129846:exon8:c.G1216A:p.G406R,CACNA1C:NM_199460:exon8:c.G1216A:p.G406R	12p13.33	.	rs79891110	0.005	D	1.0	D	1.0	D	.	.	1	A	3.16	M	-4.38	D	-6.66	D	0.974	6.649	32	0.999	0.996	D	1.095	D	0.960	D	0.487	0	5.27	0.917	1.048	1.000	1.000	19.098	Deleterious
1048	12	2566465	C	T	Pathogenic/Likely pathogenic	CACNA1C	.	.	.	.	.	.	.	.	.	.	12	2566465	2566465	C	T	exonic	CACNA1C	.	nonsynonymous SNV	CACNA1C:NM_000719:exon12:c.C1552T:p.R518C,CACNA1C:NM_001129827:exon12:c.C1552T:p.R518C,CACNA1C:NM_001129829:exon12:c.C1552T:p.R518C,CACNA1C:NM_001129830:exon12:c.C1552T:p.R518C,CACNA1C:NM_001129831:exon12:c.C1552T:p.R518C,CACNA1C:NM_001129832:exon12:c.C1552T:p.R518C,CACNA1C:NM_001129833:exon12:c.C1552T:p.R518C,CACNA1C:NM_001129834:exon12:c.C1552T:p.R518C,CACNA1C:NM_001129835:exon12:c.C1552T:p.R518C,CACNA1C:NM_001129836:exon12:c.C1552T:p.R518C,CACNA1C:NM_001129837:exon12:c.C1552T:p.R518C,CACNA1C:NM_001129838:exon12:c.C1552T:p.R518C,CACNA1C:NM_001129839:exon12:c.C1552T:p.R518C,CACNA1C:NM_001129840:exon12:c.C1552T:p.R518C,CACNA1C:NM_001129841:exon12:c.C1552T:p.R518C,CACNA1C:NM_001129842:exon12:c.C1552T:p.R518C,CACNA1C:NM_001129843:exon12:c.C1552T:p.R518C,CACNA1C:NM_001129844:exon12:c.C1543T:p.R515C,CACNA1C:NM_001129846:exon12:c.C1552T:p.R518C,CACNA1C:NM_001167623:exon12:c.C1552T:p.R518C,CACNA1C:NM_001167624:exon12:c.C1552T:p.R518C,CACNA1C:NM_001167625:exon12:c.C1552T:p.R518C,CACNA1C:NM_199460:exon12:c.C1552T:p.R518C	12p13.33	.	rs786205748	0.0	D	1.0	D	1.0	D	0.000	D	1	D	3.865	H	-3.33	D	-6.3	D	0.905	7.187	34	0.999	0.927	D	1.062	D	0.925	D	0.554	0	4.41	0.871	0.038	0.983	0.142	13.122	Deleterious
1049	12	6034812	G	A	Pathogenic	VWF	.	.	.	.	.	.	.	.	.	.	12	6034812	6034812	G	A	exonic	VWF	.	nonsynonymous SNV	VWF:NM_000552:exon20:c.G2561T:p.R854L	12p13.31	.	.	0.004	D	1.0	D	0.997	D	0.004	N	1	D	3.35	M	-0.07	T	-6.52	D	0.899	8.152	35	0.999	0.947	D	0.239	D	0.539	D	0.672	0	5.56	0.871	0.892	0.776	1.000	17.027	Deleterious
1050	12	6464888	T	G	Pathogenic	VAMP1|TAPBPL	.	.	.	.	.	.	.	.	.	.	12	6464888	6464888	T	G	exonic;splicing	VAMP1;VAMP1	NM_014231:exon4:c.340+2A>C,NM_016830:exon4:c.340+2A>C,NM_001297438:exon4:c.340+2A>C	synonymous SNV	VAMP1:NM_199245:exon4:c.T342C:p.S114S	12p13.31	.	.	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	5.508	26.3	0.995	0.987	D	.	.	.	.	0.707	0	5.73	1.062	1.199	1.000	1.000	16.017	Deleterious (FATHMM)
1051	12	8605391	G	A	Pathogenic/Likely pathogenic	AICDA	.	.	.	.	.	.	.	.	.	.	12	8605391	8605391	G	A	exonic	AICDA	.	nonsynonymous SNV	AICDA:NM_020661:exon3:c.G251T:p.W84L	12p13.31	.	.	0.001	D	1.0	D	0.998	D	0.000	D	1	D	3.32	M	0.04	T	-12.75	D	0.952	7.198	34	0.988	0.994	D	0.286	D	0.543	D	0.672	0	5.32	0.871	0.935	0.999	1.000	17.562	Deleterious
1052	12	25209896	T	G	Pathogenic/Likely pathogenic	KRAS	.	.	.	.	.	.	.	.	.	.	12	25209896	25209896	T	G	exonic	KRAS	.	nonsynonymous SNV	KRAS:NM_004985:exon5:c.T466C:p.F156L	12p12.1	.	.	0.008	D	0.962	D	0.687	P	.	.	1	D	.	.	-1.16	T	-0.61	N	0.969	2.382	18.70	0.995	0.995	D	0.325	D	0.607	D	0.732	0	5.43	1.062	1.113	1.000	1.000	14.658	Deleterious
1053	12	25209904	A	G	Pathogenic/Likely pathogenic	KRAS	.	.	.	.	.	.	.	.	.	.	12	25209904	25209904	A	G	exonic	KRAS	.	nonsynonymous SNV	KRAS:NM_004985:exon5:c.A458C:p.D153A	12p12.1	.	.	0.004	D	0.766	P	0.234	B	.	.	1	D	.	.	-1.05	T	-0.95	N	0.925	2.384	18.72	0.993	0.993	D	-0.203	T	0.385	T	0.732	0	5.87	0.991	0.988	0.999	0.999	14.007	Tolerated
1054	12	25209904	A	T	Pathogenic	KRAS	.	.	.	.	.	.	.	.	.	.	12	25209904	25209904	A	T	exonic	KRAS	.	synonymous SNV	KRAS:NM_004985:exon5:c.A458A:p.D153D	12p12.1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
1055	12	25227345	G	T	Pathogenic/Likely pathogenic	KRAS	.	.	.	.	.	.	.	.	.	.	12	25227345	25227345	G	T	exonic	KRAS	.	nonsynonymous SNV	KRAS:NM_004985:exon3:c.G179A:p.G60D,KRAS:NM_033360:exon3:c.G179A:p.G60D	12p12.1	.	.	0.0	D	1.0	D	1.0	D	0.000	N	1	D	4.445	H	-3.26	D	-6.56	D	0.933	6.304	29.1	0.999	0.980	D	1.100	D	0.943	D	0.722	0	4.88	0.871	0.919	1.000	1.000	15.570	Deleterious
1056	12	25227346	G	C	Pathogenic	KRAS	.	.	.	.	.	.	.	.	.	.	12	25227346	25227346	G	C	exonic	KRAS	.	synonymous SNV	KRAS:NM_004985:exon3:c.G178G:p.G60G,KRAS:NM_033360:exon3:c.G178G:p.G60G	12p12.1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
1057	12	25227351	C	T	Pathogenic	KRAS	.	.	.	.	.	.	.	.	.	.	12	25227351	25227351	C	T	exonic	KRAS	.	nonsynonymous SNV	KRAS:NM_004985:exon3:c.C173A:p.T58K,KRAS:NM_033360:exon3:c.C173A:p.T58K	12p12.1	.	.	0.0	D	1.0	D	0.999	D	0.000	N	1	D	4.625	H	-2.31	D	-5.62	D	0.826	6.166	28.5	0.993	0.989	D	1.060	D	0.890	D	0.722	0	4.87	0.917	0.087	1.000	0.999	15.495	Deleterious
1058	12	25245284	C	T	Pathogenic	KRAS	.	.	.	.	.	.	.	.	.	.	12	25245284	25245284	C	T	exonic	KRAS	.	nonsynonymous SNV	KRAS:NM_004985:exon2:c.C101A:p.P34Q,KRAS:NM_033360:exon2:c.C101A:p.P34Q	12p12.1	.	.	0.001	D	1.0	D	1.0	D	0.000	D	1	D	3.24	M	-0.77	T	-6.76	D	0.954	6.247	28.9	0.993	0.990	D	0.748	D	0.784	D	0.732	0	5.68	0.917	1.029	0.999	1.000	18.372	Deleterious
1059	12	25245284	C	G	Pathogenic/Likely pathogenic	KRAS	.	.	.	.	.	.	.	.	.	.	12	25245284	25245284	C	G	exonic	KRAS	.	synonymous SNV	KRAS:NM_004985:exon2:c.C101C:p.P34P,KRAS:NM_033360:exon2:c.C101C:p.P34P	12p12.1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
1060	12	25245320	A	G	Pathogenic/Likely pathogenic	KRAS	.	.	.	.	.	.	.	.	.	.	12	25245320	25245320	A	G	exonic	KRAS	.	nonsynonymous SNV	KRAS:NM_004985:exon2:c.A65C:p.Q22P,KRAS:NM_033360:exon2:c.A65C:p.Q22P	12p12.1	.	.	0.001	D	1.0	D	0.998	D	0.000	D	1	D	4.045	H	-0.51	T	-4.99	D	0.98	5.870	27.4	0.996	0.981	D	0.852	D	0.787	D	0.732	0	5.68	0.991	1.042	1.000	1.000	14.768	Deleterious
1061	12	25245345	G	A	Pathogenic	KRAS	.	.	.	.	.	.	.	.	.	.	12	25245345	25245345	G	A	exonic	KRAS	.	nonsynonymous SNV	KRAS:NM_004985:exon2:c.G40T:p.V14L,KRAS:NM_033360:exon2:c.G40T:p.V14L	12p12.1	.	.	0.002	D	0.999	D	0.965	D	0.000	D	1	D	4.33	H	-1.62	D	-2.52	D	0.917	7.124	34	0.998	0.984	D	0.966	D	0.840	D	0.732	0	5.68	0.871	0.919	1.000	1.000	18.372	Deleterious
1062	12	32796108	G	A	Pathogenic/Likely pathogenic	PKP2	.	.	.	.	.	.	.	.	.	.	12	32796108	32796108	G	A	splicing	PKP2	NM_004572:exon12:c.2489+1C>T,NM_001005242:exon11:c.2357+1C>T	.	.	12p11.21	.	rs111517471	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	4.486	24.3	0.989	0.925	D	.	.	.	.	0.156	0	5.06	0.871	0.931	0.087	0.158	17.583	Deleterious (FATHMM)
1063	12	32802557	G	C	Pathogenic/Likely pathogenic	PKP2	.	.	.	.	.	.	.	.	.	.	12	32802557	32802557	G	C	splicing	PKP2	NM_004572:exon11:c.2146-1C>G,NM_001005242:exon10:c.2014-1C>G	.	.	12p11.21	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.
1064	12	32822526	C	T	Pathogenic	PKP2	.	.	.	.	.	.	.	.	.	.	12	32822526	32822526	C	T	exonic	PKP2	.	nonsynonymous SNV	PKP2:NM_001005242:exon8:c.C1780A:p.Q594K,PKP2:NM_004572:exon9:c.C1912A:p.Q638K	12p11.21	.	.	0.665	T	0.544	P	0.121	B	0.230	N	0.987	D	1.1	L	-0.88	T	-1.1	N	0.124	1.878	15.45	0.944	0.873	D	-0.706	T	0.226	T	0.732	0	5.05	0.917	1.048	1.000	1.000	10.570	Tolerated
1065	12	32841027	G	A	Pathogenic/Likely pathogenic	PKP2	.	.	.	.	.	.	.	.	.	.	12	32841027	32841027	G	A	splicing	PKP2	NM_004572:exon7:c.1688+1C>T,NM_001005242:exon6:c.1556+1C>T	.	.	12p11.21	.	.	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	4.845	24.8	0.992	0.978	D	.	.	.	.	0.078	0	4.37	0.871	0.935	0.974	0.979	13.706	Deleterious (FATHMM)
1066	12	32841103	G	A	Pathogenic/Likely pathogenic	PKP2	.	.	.	.	.	.	.	.	.	.	12	32841103	32841103	G	A	exonic	PKP2	.	nonsynonymous SNV	PKP2:NM_001005242:exon6:c.G1481T:p.W494L,PKP2:NM_004572:exon7:c.G1613T:p.W538L	12p11.21	.	.	0.114	T	0.89	P	0.493	P	0.001	D	0.992	D	1.765	L	-1.03	T	-7.77	D	0.695	5.362	25.9	0.975	0.855	D	-0.103	T	0.436	T	0.706	0	5.15	0.871	0.935	0.998	0.974	18.647	Tolerated
1067	12	32850765	G	C	Pathogenic/Likely pathogenic	PKP2	.	.	.	.	.	.	.	.	.	.	12	32850765	32850765	G	C	splicing	PKP2	NM_004572:exon5:c.1378+1C>G,NM_001005242:exon5:c.1378+1C>G	.	.	12p11.21	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.
1068	12	32850907	C	T	Pathogenic/Likely pathogenic	PKP2	.	.	.	.	.	.	.	.	.	.	12	32850907	32850907	C	T	exonic	PKP2	.	synonymous SNV	PKP2:NM_001005242:exon5:c.C1237A:p.R413R,PKP2:NM_004572:exon5:c.C1237A:p.R413R	12p11.21	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
1069	12	32868925	T	A	Pathogenic/Likely pathogenic	PKP2	.	.	.	.	.	.	.	.	.	.	12	32868925	32868925	T	A	splicing	PKP2	NM_004572:exon4:c.1170+2A>T,NM_001005242:exon4:c.1170+2A>T	.	.	12p11.21	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.
1070	12	32868926	G	A	Pathogenic/Likely pathogenic	PKP2	.	.	.	.	.	.	.	.	.	.	12	32868926	32868926	G	A	splicing	PKP2	NM_004572:exon4:c.1170+1C>T,NM_001005242:exon4:c.1170+1C>T	.	.	12p11.21	.	.	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	5.431	26.1	0.994	0.950	D	.	.	.	.	0.164	0	4.92	0.871	0.837	0.984	0.992	15.936	Deleterious (FATHMM)
1071	12	32868935	C	T	Pathogenic	PKP2	.	.	.	.	.	.	.	.	.	.	12	32868935	32868935	C	T	exonic	PKP2	.	synonymous SNV	PKP2:NM_001005242:exon4:c.C1162A:p.R388R,PKP2:NM_004572:exon4:c.C1162A:p.R388R	12p11.21	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
1072	12	32868965	C	T	Pathogenic/Likely pathogenic	PKP2	.	.	.	.	.	.	.	.	.	.	12	32868965	32868965	C	T	exonic	PKP2	.	nonsynonymous SNV	PKP2:NM_001005242:exon4:c.C1132A:p.Q378K,PKP2:NM_004572:exon4:c.C1132A:p.Q378K	12p11.21	.	.	0.003	D	0.009	B	0.008	B	0.000	N	1.000	D	1.955	M	0.84	T	-3.53	D	0.469	3.137	22.6	0.985	0.965	D	-0.885	T	0.151	T	0.732	0	5.05	0.917	0.937	0.999	0.997	16.236	Tolerated
1073	12	32878108	A	T	Pathogenic/Likely pathogenic	PKP2	.	.	.	.	.	.	.	.	.	.	12	32878108	32878108	A	T	exonic	PKP2	.	synonymous SNV	PKP2:NM_001005242:exon3:c.A772A:p.K258K,PKP2:NM_004572:exon3:c.A772A:p.K258K	12p11.21	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
1074	12	32878512	G	A	Pathogenic	PKP2	.	.	.	.	.	.	.	.	.	.	12	32878512	32878512	G	A	exonic	PKP2	.	nonsynonymous SNV	PKP2:NM_001005242:exon3:c.G368T:p.W123L,PKP2:NM_004572:exon3:c.G368T:p.W123L	12p11.21	.	.	0.381	T	0.022	B	0.018	B	0.846	N	0.613	N	0.97	L	-1.27	T	-2.03	N	0.361	2.216	17.61	0.953	0.872	D	-0.768	T	0.343	T	0.651	0	3.88	-0.105	0.848	0.375	0.999	13.911	Tolerated
1075	12	32878545	A	T	Pathogenic/Likely pathogenic	PKP2	.	.	.	.	.	.	.	.	.	.	12	32878545	32878545	A	T	splicing	PKP2	NM_004572:exon3:c.337-2T>A,NM_001005242:exon3:c.337-2T>A	.	.	12p11.21	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.
1076	12	32879021	C	T	Pathogenic	PKP2	.	.	.	.	.	.	.	.	.	.	12	32879021	32879021	C	T	exonic	PKP2	.	synonymous SNV	PKP2:NM_001005242:exon2:c.C235A:p.R79R,PKP2:NM_004572:exon2:c.C235A:p.R79R	12p11.21	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
1077	12	40340400	G	A	Pathogenic	LRRK2	.	.	.	.	.	.	.	.	.	.	12	40340400	40340400	G	A	exonic	LRRK2	.	nonsynonymous SNV	LRRK2:NM_198578:exon41:c.G6055A:p.G2019S	12q12	0.0004	rs34637584	0.0	D	1.0	D	1.0	D	0.000	D	1	A	3.765	H	-6.08	D	-5.14	D	0.97	7.654	35	0.998	0.989	D	1.002	D	0.990	D	0.554	0	5.69	0.917	1.048	0.993	0.859	19.822	Deleterious
1078	12	47999953	C	A	Pathogenic	COL2A1	.	.	.	.	.	.	.	.	.	.	12	47999953	47999953	C	A	exonic	COL2A1	.	synonymous SNV	COL2A1:NM_001844:exon2:c.C258T:p.C86C	12q13.11	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
1079	12	49026905	C	T	Pathogenic	KMT2D	.	.	.	.	.	.	.	.	.	.	12	49026905	49026905	C	T	exonic	KMT2D	.	synonymous SNV	KMT2D:NM_003482:exon48:c.C15061A:p.R5021R	12q13.12	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
1080	12	49027256	C	T	Pathogenic, other	KMT2D	.	.	.	.	.	.	.	.	.	.	12	49027256	49027256	C	T	exonic	KMT2D	.	synonymous SNV	KMT2D:NM_003482:exon48:c.C14710A:p.R4904R	12q13.12	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
1081	12	49030958	C	T	Pathogenic	KMT2D	.	.	.	.	.	.	.	.	.	.	12	49030958	49030958	C	T	exonic	KMT2D	.	synonymous SNV	KMT2D:NM_003482:exon40:c.C13606A:p.R4536R	12q13.12	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
1082	12	49050467	C	T	Pathogenic	KMT2D	.	.	.	.	.	.	.	.	.	.	12	49050467	49050467	C	T	exonic	KMT2D	.	nonsynonymous SNV	KMT2D:NM_003482:exon11:c.C3121A:p.Q1041K	12q13.12	.	.	0.005	D	0.034	B	0.017	B	0.099	N	0.995	N	0	N	-1.25	T	-0.5	N	0.173	0.199	4.667	0.754	0.977	D	-0.757	T	0.226	T	0.722	0	4.18	0.630	0.813	0.367	0.145	12.438	Tolerated
1083	12	49185101	G	A	Pathogenic	TUBA1A	.	.	.	.	.	.	.	.	.	.	12	49185101	49185101	G	A	exonic	TUBA1A	.	nonsynonymous SNV	TUBA1A:NM_001270399:exon4:c.G1265T:p.R422L,TUBA1A:NM_001270400:exon4:c.G1160T:p.R387L,TUBA1A:NM_006009:exon4:c.G1265T:p.R422L	12q13.12	.	.	0.0	D	0.049	B	0.154	B	0.000	D	1	D	3.145	M	-1.87	D	-4.4	D	0.873	6.874	33	0.965	0.977	D	0.271	D	0.660	D	0.722	0	4.62	0.871	0.790	0.999	1.000	13.371	Deleterious
1084	12	49186832	G	A	Pathogenic/Likely pathogenic	TUBA1A	.	.	.	.	.	.	.	.	.	.	12	49186832	49186832	G	A	exonic	TUBA1A	.	nonsynonymous SNV	TUBA1A:NM_001270399:exon2:c.G5T:p.R2L,TUBA1A:NM_006009:exon2:c.G5T:p.R2L	12q13.12	.	.	0.0	D	0.994	D	0.967	D	0.000	D	1	D	3.92	H	-0.49	T	-3.44	D	0.951	7.694	35	0.997	0.993	D	0.629	D	0.676	D	0.706	0	5.29	0.871	0.852	0.999	0.997	18.093	Deleterious
1085	12	51765675	G	A	Pathogenic/Likely pathogenic	SCN8A	.	.	.	.	.	.	.	.	.	.	12	51765675	51765675	G	A	exonic	SCN8A	.	nonsynonymous SNV	SCN8A:NM_001177984:exon16:c.G2549A:p.R850Q,SCN8A:NM_014191:exon16:c.G2549A:p.R850Q	12q13.13	.	rs587780586	0.0	D	1.0	D	0.999	D	0.000	D	1	D	4.27	H	-6.27	D	-3.73	D	0.973	7.258	34	0.999	0.997	D	0.945	D	0.992	D	0.707	0	4.45	0.917	1.048	1.000	1.000	18.411	Deleterious
1086	12	51807100	C	T	Pathogenic/Likely pathogenic	SCN8A	.	.	.	.	.	.	.	.	.	.	12	51807100	51807100	C	T	exonic	SCN8A	.	nonsynonymous SNV	SCN8A:NM_001177984:exon26:c.C5491T:p.R1831W,SCN8A:NM_014191:exon27:c.C5614T:p.R1872W	12q13.13	.	rs796053228	0.0	D	1.0	D	1.0	D	0.000	D	1	D	2.43	M	-4.0	D	-6.84	D	0.905	6.365	29.4	0.998	0.837	D	1.014	D	0.921	D	0.707	0	1.78	0.871	0.852	1.000	1.000	13.219	Deleterious
1087	12	76348214	C	T	Pathogenic	BBS10	.	.	.	.	.	.	.	.	.	.	12	76348214	76348214	C	T	exonic	BBS10	.	synonymous SNV	BBS10:NM_024685:exon1:c.C145A:p.R49R	12q21.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
1088	12	88077263	G	T	Pathogenic	CEP290	.	.	.	.	.	.	.	.	.	.	12	88077263	88077263	G	T	exonic	CEP290	.	nonsynonymous SNV	CEP290:NM_025114:exon41:c.G5668A:p.G1890R	12q21.32	.	.	0.999	T	0.0	B	0.0	B	0.000	N	0.998	N	-2.005	N	0.59	T	2.0	N	0.179	1.076	11.08	0.089	0.052	N	-0.963	T	0.043	T	0.651	0	2.73	0.021	0.082	0.845	0.991	9.071	Tolerated
1089	12	88101183	A	G	Pathogenic	CEP290	.	.	.	.	.	.	.	.	.	.	12	88101183	88101183	A	G	intronic	CEP290	.	.	.	12q21.32	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	probably Tolerated (Intron)
1090	12	101770182	C	T	Pathogenic	GNPTAB	.	.	.	.	.	.	.	.	.	.	12	101770182	101770182	C	T	exonic	GNPTAB	.	synonymous SNV	GNPTAB:NM_024312:exon10:c.C1123A:p.R375R	12q23.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
1091	12	102840399	G	A	Pathogenic	PAH	.	.	.	.	.	.	.	.	.	.	12	102840399	102840399	G	A	splicing	PAH	NM_000277:exon12:c.1315+1C>T	.	.	12q23.2	.	.	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	5.266	25.7	0.995	0.984	D	.	.	.	.	0.061	0	5.33	0.871	0.935	0.987	0.996	18.147	Deleterious (FATHMM)
1092	12	102840472	G	A	Pathogenic	PAH	.	.	.	.	.	.	.	.	.	.	12	102840472	102840472	G	A	exonic	PAH	.	nonsynonymous SNV	PAH:NM_000277:exon12:c.G1243T:p.D415Y	12q23.2	.	.	0.0	D	0.999	D	0.989	D	0.000	D	1.000	D	2.575	M	-6.29	D	-3.54	D	0.939	6.757	32	0.994	0.878	D	1.095	D	0.981	D	0.638	0	4.74	0.871	0.935	0.999	0.960	7.614	Deleterious
1093	12	102840474	A	G	Pathogenic	PAH	.	.	.	.	.	.	.	.	.	.	12	102840474	102840474	A	G	exonic	PAH	.	nonsynonymous SNV	PAH:NM_000277:exon12:c.A1241C:p.Y414S	12q23.2	.	.	0.0	D	1.0	D	0.999	D	0.000	D	1	D	3.955	H	-6.53	D	-8.1	D	0.981	6.217	28.8	0.993	0.966	D	0.956	D	0.992	D	0.638	0	5.63	0.991	1.061	0.999	0.914	14.816	Deleterious
1094	12	102840493	C	T	Pathogenic	PAH	.	.	.	.	.	.	.	.	.	.	12	102840493	102840493	C	T	exonic	PAH	.	synonymous SNV	PAH:NM_000277:exon12:c.C1222A:p.R408R	12q23.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
1095	12	102840507	C	T	Pathogenic	PAH	.	.	.	.	.	.	.	.	.	.	12	102840507	102840507	C	T	exonic	PAH	.	nonsynonymous SNV	PAH:NM_000277:exon12:c.C1208A:p.A403D	12q23.2	.	.	0.001	D	0.995	D	0.99	D	0.000	D	1	D	3.835	H	-6.35	D	-4.59	D	0.865	6.823	32	0.998	0.958	D	0.985	D	0.991	D	0.638	0	5.63	0.917	1.048	0.985	1.000	18.445	Deleterious
1096	12	102843645	G	C	Pathogenic/Likely pathogenic, not provided	PAH	.	.	.	.	.	.	.	.	.	.	12	102843645	102843645	G	C	splicing	PAH	NM_000277:exon11:c.1199+1C>G	.	.	12q23.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.
1097	12	102843676	A	G	Pathogenic	PAH	.	.	.	.	.	.	.	.	.	.	12	102843676	102843676	A	G	exonic	PAH	.	nonsynonymous SNV	PAH:NM_000277:exon11:c.A1169C:p.E390A	12q23.2	.	.	0.002	D	0.951	P	0.843	P	0.000	D	1	D	3.465	M	-6.43	D	-4.77	D	0.846	5.299	25.8	0.994	0.988	D	0.985	D	0.989	D	0.638	0	5.34	0.991	1.011	0.873	0.835	15.322	Deleterious
1098	12	102843683	G	A	Pathogenic	PAH	.	.	.	.	.	.	.	.	.	.	12	102843683	102843683	G	A	exonic	PAH	.	nonsynonymous SNV	PAH:NM_000277:exon11:c.G1162T:p.V388L	12q23.2	.	rs62516101	0.101	T	0.078	B	0.133	B	0.000	D	1	D	1.775	L	-6.57	D	-1.47	N	0.966	3.254	22.8	0.983	0.976	D	1.050	D	0.965	D	0.638	0	5.34	0.871	0.892	0.650	0.484	12.403	Deleterious
1099	12	102843688	A	G	Pathogenic/Likely pathogenic, not provided	PAH	.	.	.	.	.	.	.	.	.	.	12	102843688	102843688	A	G	exonic	PAH	.	nonsynonymous SNV	PAH:NM_000277:exon11:c.A1157C:p.Y386S	12q23.2	.	.	0.0	D	1.0	D	1.0	D	0.000	D	1	D	4.4	H	-6.89	D	-8.51	D	0.985	5.593	26.5	0.990	0.988	D	0.912	D	0.995	D	0.638	0	5.34	0.991	1.011	0.654	0.743	15.322	Deleterious
1100	12	102843706	C	T	Pathogenic/Likely pathogenic, not provided	PAH	.	.	.	.	.	.	.	.	.	.	12	102843706	102843706	C	T	exonic	PAH	.	nonsynonymous SNV	PAH:NM_000277:exon11:c.C1139A:p.T380K	12q23.2	.	.	0.015	D	1.0	D	0.995	D	0.000	D	1	D	3.975	H	-6.18	D	-5.78	D	0.852	5.805	27.1	0.989	0.977	D	0.972	D	0.992	D	0.638	0	5.34	0.917	0.998	0.993	0.661	19.048	Deleterious
1101	12	102843777	C	A	Pathogenic	PAH	.	.	.	.	.	.	.	.	.	.	12	102843777	102843777	C	A	exonic	PAH	.	synonymous SNV	PAH:NM_000277:exon11:c.C1068T:p.Y356Y	12q23.2	.	rs62516095	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
1102	12	102843782	C	T	Pathogenic/Likely pathogenic, not provided	PAH	.	.	.	.	.	.	.	.	.	.	12	102843782	102843782	C	T	intronic	PAH	.	.	.	12q23.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	probably Tolerated (Intron)
1103	12	102843790	G	A	Pathogenic	PAH	.	.	.	.	.	.	.	.	.	.	12	102843790	102843790	G	A	intronic	PAH	.	.	.	12q23.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	probably Tolerated (Intron)
1104	12	102844356	T	C	Pathogenic	PAH	.	.	.	.	.	.	.	.	.	.	12	102844356	102844356	T	C	exonic	PAH	.	nonsynonymous SNV	PAH:NM_000277:exon10:c.T1045G:p.S349A	12q23.2	.	rs62508646	0.002	D	0.998	D	0.993	D	0.000	D	1	D	4.485	H	-6.82	D	-2.86	D	0.939	6.071	28.1	0.998	0.998	D	0.910	D	0.995	D	0.638	0	5.81	1.062	1.199	0.997	0.986	16.162	Deleterious
1105	12	102844368	G	T	Pathogenic	PAH	.	.	.	.	.	.	.	.	.	.	12	102844368	102844368	G	T	exonic	PAH	.	nonsynonymous SNV	PAH:NM_000277:exon10:c.G1033A:p.A345T	12q23.2	.	rs62516062	0.002	D	1.0	D	0.997	D	0.000	D	1	D	4.345	H	-7.01	D	-3.79	D	0.979	7.410	34	0.999	0.990	D	0.918	D	0.996	D	0.638	0	5.81	0.871	0.935	1.000	1.000	20.078	Deleterious
1106	12	102846932	T	C	Pathogenic/Likely pathogenic, not provided	PAH	.	.	.	.	.	.	.	.	.	.	12	102846932	102846932	T	C	exonic	PAH	.	nonsynonymous SNV	PAH:NM_000277:exon9:c.T932G:p.L311R	12q23.2	.	.	0.0	D	1.0	D	1.0	D	0.000	D	1	D	2.92	M	-6.84	D	-5.84	D	0.99	6.075	28.1	0.997	0.997	D	0.974	D	0.991	D	0.638	0	5.38	1.062	1.082	0.987	0.946	15.398	Deleterious
1107	12	102846948	A	G	Pathogenic/Likely pathogenic, not provided	PAH	.	.	.	.	.	.	.	.	.	.	12	102846948	102846948	A	G	exonic	PAH	.	nonsynonymous SNV	PAH:NM_000277:exon9:c.A916C:p.I306L	12q23.2	.	.	0.105	T	0.991	D	0.949	D	0.000	D	1	D	2.65	M	-6.46	D	-1.94	N	0.804	4.639	24.5	0.990	0.995	D	1.039	D	0.987	D	0.638	0	5.38	0.991	0.960	1.000	0.974	15.398	Deleterious
1108	12	102851701	G	T	Pathogenic	PAH	.	.	.	.	.	.	.	.	.	.	12	102851701	102851701	G	T	exonic	PAH	.	nonsynonymous SNV	PAH:NM_000277:exon8:c.G898A:p.A300T	12q23.2	.	.	0.0	D	1.0	D	0.999	D	0.000	N	1	D	4.46	H	-7.09	D	-3.89	D	0.982	7.554	34	0.999	0.972	D	0.910	D	0.996	D	0.638	0	5.51	0.871	0.935	1.000	1.000	19.779	Deleterious
1109	12	102851703	T	G	Pathogenic/Likely pathogenic, not provided	PAH	.	.	.	.	.	.	.	.	.	.	12	102851703	102851703	T	G	exonic	PAH	.	nonsynonymous SNV	PAH:NM_000277:exon8:c.T896C:p.F299S	12q23.2	.	.	0.0	D	1.0	D	1.0	D	0.000	D	1	D	4.355	H	-7.0	D	-7.78	D	0.982	6.969	33	0.999	0.980	D	0.904	D	0.996	D	0.638	0	5.51	1.062	1.199	0.999	1.000	15.919	Deleterious
1110	12	102852815	C	T	Pathogenic	PAH	.	.	.	.	.	.	.	.	.	.	12	102852815	102852815	C	T	exonic	PAH	.	nonsynonymous SNV	PAH:NM_000277:exon7:c.C842A:p.P281H	12q23.2	.	.	0.0	D	1.0	D	1.0	D	0.000	D	1	D	4.48	H	-7.91	D	-8.63	D	0.97	6.324	29.2	0.997	0.993	D	0.910	D	0.998	D	0.638	0	5.73	0.917	1.048	0.997	0.980	19.896	Deleterious
1111	12	102852819	G	A	Pathogenic	PAH	.	.	.	.	.	.	.	.	.	.	12	102852819	102852819	G	A	exonic	PAH	.	stopgain	PAH:NM_000277:exon7:c.G838T:p.E280X	12q23.2	.	.	.	.	.	.	.	.	0.000	D	1	A	.	.	.	.	.	.	.	13.343	41	0.997	0.988	D	.	.	.	.	0.638	0	5.73	0.871	0.935	0.996	0.779	19.896	Deleterious (FATHMM)
1112	12	102852828	T	G	Pathogenic	PAH	.	.	.	.	.	.	.	.	.	.	12	102852828	102852828	T	G	exonic	PAH	.	nonsynonymous SNV	PAH:NM_000277:exon7:c.T829C:p.Y277H	12q23.2	.	.	0.548	T	1.0	D	1.0	D	0.000	N	1	D	2.045	M	-6.82	D	-4.79	D	0.75	3.609	23.2	0.996	0.979	D	1.165	D	0.984	D	0.638	0	4.58	1.062	1.199	0.998	0.944	11.516	Deleterious
1113	12	102852875	G	A	Pathogenic	PAH	.	.	.	.	.	.	.	.	.	.	12	102852875	102852875	G	A	exonic	PAH	.	nonsynonymous SNV	PAH:NM_000277:exon7:c.G782T:p.R261L	12q23.2	.	.	0.001	D	1.0	D	0.998	D	0.000	D	1	D	4.26	H	-6.72	D	-6.61	D	0.991	8.087	35	0.999	0.988	D	0.929	D	0.995	D	0.638	0	5.72	0.871	0.935	0.997	1.000	19.876	Deleterious
1114	12	102852903	C	T	Pathogenic/Likely pathogenic, not provided	PAH	.	.	.	.	.	.	.	.	.	.	12	102852903	102852903	C	T	exonic	PAH	.	synonymous SNV	PAH:NM_000277:exon7:c.C754A:p.R252R	12q23.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
1115	12	102852912	C	T	Pathogenic	PAH	.	.	.	.	.	.	.	.	.	.	12	102852912	102852912	C	T	exonic	PAH	.	nonsynonymous SNV	PAH:NM_000277:exon7:c.C745A:p.L249I	12q23.2	.	.	0.001	D	0.994	D	0.975	D	0.000	D	1	D	1.335	L	-6.07	D	-1.92	N	0.727	6.247	28.9	0.995	0.989	D	1.102	D	0.971	D	0.638	0	5.03	0.917	1.048	0.995	0.998	14.970	Deleterious
1116	12	102852930	C	T	Pathogenic	PAH	.	.	.	.	.	.	.	.	.	.	12	102852930	102852930	C	T	exonic	PAH	.	synonymous SNV	PAH:NM_000277:exon7:c.C727A:p.R243R	12q23.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
1117	12	102852936	C	T	Pathogenic	PAH	.	.	.	.	.	.	.	.	.	.	12	102852936	102852936	C	T	exonic	PAH	.	nonsynonymous SNV	PAH:NM_000277:exon7:c.C721A:p.R241S	12q23.2	.	.	0.433	T	0.835	P	0.677	P	0.000	D	1	D	0.99	L	-6.06	D	-0.13	N	0.745	5.210	25.6	0.996	0.973	D	1.091	D	0.959	D	0.638	0	5.92	0.917	1.048	1.000	1.000	20.317	Deleterious
1118	12	102855204	T	C	Pathogenic/Likely pathogenic, not provided	PAH	.	.	.	.	.	.	.	.	.	.	12	102855204	102855204	T	C	exonic	PAH	.	nonsynonymous SNV	PAH:NM_000277:exon6:c.T638G:p.L213R	12q23.2	.	.	0.0	D	1.0	D	1.0	D	0.000	D	1	D	4.275	H	-6.84	D	-5.73	D	0.946	6.352	29.4	0.998	0.993	D	0.917	D	0.994	D	0.638	0	5.63	1.062	1.199	1.000	1.000	15.835	Deleterious
1119	12	102855231	A	G	Pathogenic/Likely pathogenic, not provided	PAH	.	.	.	.	.	.	.	.	.	.	12	102855231	102855231	A	G	exonic	PAH	.	nonsynonymous SNV	PAH:NM_000277:exon6:c.A611C:p.Y204S	12q23.2	.	.	0.143	T	0.05	B	0.158	B	0.000	N	1.000	D	-0.24	N	-6.01	D	0.72	N	0.409	2.541	19.73	0.941	0.952	D	0.772	D	0.903	D	0.638	0	4.7	0.991	1.061	0.997	0.997	13.039	Deleterious
1120	12	102855309	A	G	Pathogenic	PAH	.	.	.	.	.	.	.	.	.	.	12	102855309	102855309	A	G	exonic	PAH	.	nonsynonymous SNV	PAH:NM_000277:exon6:c.A533C:p.E178A	12q23.2	.	.	0.063	T	0.512	P	0.634	P	0.001	D	0.998	D	1.81	L	-6.37	D	-3.65	D	0.515	4.046	23.7	0.996	0.927	D	1.041	D	0.977	D	0.638	0	5.73	0.991	1.061	0.998	0.998	11.507	Deleterious
1121	12	102855315	G	T	Pathogenic	PAH	.	.	.	.	.	.	.	.	.	.	12	102855315	102855315	G	T	exonic	PAH	.	nonsynonymous SNV	PAH:NM_000277:exon6:c.G527A:p.R176Q	12q23.2	.	rs74486803	0.048	D	0.143	B	0.051	B	0.015	N	1.000	N	1.88	L	-6.11	D	-2.22	N	0.668	4.162	23.8	0.993	0.135	N	0.936	D	0.943	D	0.554	0	0.698	-0.032	-0.347	0.981	0.949	9.429	Deleterious
1122	12	102855316	C	T	Pathogenic	PAH	.	.	.	.	.	.	.	.	.	.	12	102855316	102855316	C	T	exonic	PAH	.	synonymous SNV	PAH:NM_000277:exon6:c.C526A:p.R176R	12q23.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
1123	12	102866597	C	G	Pathogenic	PAH	.	.	.	.	.	.	.	.	.	.	12	102866597	102866597	C	G	exonic	PAH	.	synonymous SNV	PAH:NM_000277:exon5:c.C508C:p.H170H	12q23.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
1124	12	102866632	G	A	Pathogenic	PAH	.	.	.	.	.	.	.	.	.	.	12	102866632	102866632	G	A	exonic	PAH	.	nonsynonymous SNV	PAH:NM_000277:exon5:c.G473T:p.R158L	12q23.2	.	.	0.0	D	1.0	D	1.0	D	0.000	D	1	D	4.12	H	-6.72	D	-6.78	D	0.921	7.541	34	0.999	0.964	D	0.923	D	0.994	D	0.638	0	5.17	0.871	0.935	0.993	0.992	14.650	Deleterious
1125	12	102877457	G	T	Pathogenic	PAH	.	.	.	.	.	.	.	.	.	.	12	102877457	102877457	G	T	intronic	PAH	.	.	.	12q23.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	probably Tolerated (Intron)
1126	12	102877461	G	A	Pathogenic/Likely pathogenic, not provided	PAH	.	.	.	.	.	.	.	.	.	.	12	102877461	102877461	G	A	splicing	PAH	NM_000277:exon4:c.441+1C>T	.	.	12q23.2	.	.	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	5.166	25.5	0.994	0.948	D	.	.	.	.	0.054	0	5.86	0.871	0.935	0.918	0.850	20.177	Deleterious (FATHMM)
1127	12	102894756	C	T	Pathogenic	PAH	.	.	.	.	.	.	.	.	.	.	12	102894756	102894756	C	T	exonic	PAH	.	synonymous SNV	PAH:NM_000277:exon3:c.C331A:p.R111R	12q23.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
1128	12	102894883	A	T	Pathogenic/Likely pathogenic, not provided	PAH	.	.	.	.	.	.	.	.	.	.	12	102894883	102894883	A	T	exonic	PAH	.	synonymous SNV	PAH:NM_000277:exon3:c.A204A:p.R68R	12q23.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
1129	12	102894893	T	C	Pathogenic	PAH	.	.	.	.	.	.	.	.	.	.	12	102894893	102894893	T	C	exonic	PAH	.	nonsynonymous SNV	PAH:NM_000277:exon3:c.T194G:p.I65S	12q23.2	.	rs75193786	0.0	D	1.0	D	1.0	D	0.000	D	1	D	4.395	H	-5.68	D	-5.41	D	0.996	6.593	31	0.995	0.988	D	0.982	D	0.989	D	0.615	0	6.17	1.062	1.199	1.000	1.000	16.822	Deleterious
1130	12	102912794	T	G	Pathogenic/Likely pathogenic, not provided	PAH	.	.	.	.	.	.	.	.	.	.	12	102912794	102912794	T	G	exonic	PAH	.	synonymous SNV	PAH:NM_000277:exon2:c.T165C:p.F55F	12q23.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
1131	12	102912816	T	C	Pathogenic	PAH	.	.	.	.	.	.	.	.	.	.	12	102912816	102912816	T	C	exonic	PAH	.	nonsynonymous SNV	PAH:NM_000277:exon2:c.T143G:p.L48W	12q23.2	.	.	0.0	D	1.0	D	1.0	D	0.000	D	1	D	4.49	H	-6.67	D	-5.48	D	0.934	5.589	26.5	0.964	0.934	D	0.926	D	0.995	D	0.638	0	5.46	1.062	1.199	0.992	0.997	13.057	Deleterious
1132	12	102912842	C	G	Pathogenic	PAH	.	.	.	.	.	.	.	.	.	.	12	102912842	102912842	C	G	exonic	PAH	.	synonymous SNV	PAH:NM_000277:exon2:c.C117C:p.F39F	12q23.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
1133	12	102917066	G	T	Pathogenic	PAH	.	.	.	.	.	.	.	.	.	.	12	102917066	102917066	G	T	intronic	PAH	.	.	.	12q23.2	.	rs62514895	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	probably Tolerated (Intron)
1134	12	102917130	A	G	Pathogenic/Likely pathogenic, not provided	PAH	.	.	.	.	.	.	.	.	.	.	12	102917130	102917130	A	G	exonic	PAH	.	nonsynonymous SNV	PAH:NM_000277:exon1:c.A1C:p.M1L	12q23.2	.	.	0.597	T	0.696	P	0.746	P	0.765	N	1	D	.	.	-4.39	D	-0.47	N	0.982	0.267	5.372	0.890	0.874	D	0.903	D	0.959	D	0.405	1	5.2	0.991	1.061	0.339	0.287	11.636	Deleterious
1135	12	109557081	C	T	Pathogenic	MMAB	.	.	.	.	.	.	.	.	.	.	12	109557081	109557081	C	T	exonic	MMAB	.	nonsynonymous SNV	MMAB:NM_052845:exon9:c.C700A:p.Q234K	12q24.11	.	.	0.357	T	0.0	B	0.0	B	0.052	N	0.909	N	0.155	N	-2.59	D	-0.08	N	0.22	1.626	13.99	0.887	0.689	D	-0.754	T	0.382	T	0.706	0	4.52	-0.044	1.048	0.927	0.920	11.340	Tolerated
1136	12	109561068	C	T	Pathogenic	MMAB	.	.	.	.	.	.	.	.	.	.	12	109561068	109561068	C	T	exonic	MMAB	.	synonymous SNV	MMAB:NM_052845:exon7:c.C556A:p.R186R	12q24.11	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
1137	12	109591275	T	C	Pathogenic	MVK	.	.	.	.	.	.	.	.	.	.	12	109591275	109591275	T	C	exonic	MVK	.	nonsynonymous SNV	MVK:NM_001301182:exon8:c.T647C:p.I216T,MVK:NM_000431:exon9:c.T803C:p.I268T,MVK:NM_001114185:exon9:c.T803C:p.I268T	12q24.11	0.0003	rs104895304	0.003	D	0.983	D	0.945	D	0.000	D	1	A	2.865	M	-3.34	D	-3.86	D	0.895	5.126	25.4	0.997	0.893	D	1.060	D	0.879	D	0.732	0	4.6	0.991	1.061	0.070	0.239	10.291	Deleterious
1138	12	109596515	G	A	Pathogenic	MVK	.	.	.	.	.	.	.	.	.	.	12	109596515	109596515	G	A	exonic	MVK	.	nonsynonymous SNV	MVK:NM_001301182:exon10:c.G973A:p.V325I,MVK:NM_000431:exon11:c.G1129A:p.V377I,MVK:NM_001114185:exon11:c.G1129A:p.V377I	12q24.11	0.0017	rs28934897	0.149	T	0.45	B	0.15	B	0.000	N	1.000	A	0.205	N	-3.42	D	-0.53	N	0.758	2.617	20.3	0.981	0.932	D	0.071	D	0.580	D	0.635	0	3.17	-0.011	0.135	0.037	0.006	7.539	Deleterious
1139	12	109798823	C	T	Pathogenic	TRPV4	.	.	.	.	.	.	.	.	.	.	12	109798823	109798823	C	T	exonic	TRPV4	.	synonymous SNV	TRPV4:NM_001177428:exon4:c.C802A:p.R268R,TRPV4:NM_001177433:exon4:c.C802A:p.R268R,TRPV4:NM_147204:exon5:c.C943A:p.R315R,TRPV4:NM_001177431:exon6:c.C841A:p.R281R,TRPV4:NM_021625:exon6:c.C943A:p.R315R	12q24.11	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
1140	12	109800665	G	A	Pathogenic	TRPV4	.	.	.	.	.	.	.	.	.	.	12	109800665	109800665	G	A	exonic	TRPV4	.	nonsynonymous SNV	TRPV4:NM_147204:exon4:c.G806T:p.R269L,TRPV4:NM_001177431:exon5:c.G704T:p.R235L,TRPV4:NM_021625:exon5:c.G806T:p.R269L	12q24.11	.	.	0.259	T	0.999	D	0.854	P	0.000	D	1	D	0.645	N	-2.48	D	-2.38	N	0.903	6.316	29.2	0.998	0.881	D	0.046	D	0.626	D	0.615	0	4.92	0.871	0.852	0.984	0.955	17.087	Deleterious
1141	12	109803009	C	T	Pathogenic	TRPV4	.	.	.	.	.	.	.	.	.	.	12	109803009	109803009	C	T	exonic	TRPV4	.	nonsynonymous SNV	TRPV4:NM_001177428:exon3:c.C694A:p.R232S,TRPV4:NM_001177433:exon3:c.C694A:p.R232S,TRPV4:NM_147204:exon3:c.C694A:p.R232S,TRPV4:NM_001177431:exon4:c.C592A:p.R198S,TRPV4:NM_021625:exon4:c.C694A:p.R232S	12q24.11	.	.	0.634	T	0.982	D	0.643	P	0.000	D	1.000	D	0.345	N	-0.49	T	0.17	N	0.941	2.546	19.76	0.980	0.608	D	-0.349	T	0.494	T	0.707	0	2.56	-0.020	0.017	0.982	0.577	11.25	Tolerated
1142	12	110914287	G	A	Pathogenic/Likely pathogenic, not provided	MYL2	.	.	.	.	.	.	.	.	.	.	12	110914287	110914287	G	A	exonic	MYL2	.	nonsynonymous SNV	MYL2:NM_000432:exon4:c.G173T:p.R58L	12q24.11	.	.	0.002	D	0.999	D	0.996	D	0.000	D	1	D	-0.39	N	-0.84	T	-4.05	D	0.879	5.982	27.8	0.998	0.937	D	-0.301	T	0.366	T	0.428	0	4.88	0.824	0.935	0.933	0.988	16.796	Tolerated
1143	12	110919133	G	A	Pathogenic/Likely pathogenic, not provided	MYL2	.	.	.	.	.	.	.	.	.	.	12	110919133	110919133	G	A	exonic	MYL2	.	stopgain	MYL2:NM_000432:exon2:c.G64T:p.E22X	12q24.11	.	rs104894368	.	.	.	.	.	.	0.000	D	1	A	.	.	.	.	.	.	.	11.448	37	0.998	0.967	D	.	.	.	.	0.428	0	4.44	0.871	0.071	0.998	0.972	12.780	Deleterious (FATHMM)
1144	12	112419116	C	T	Pathogenic	PTPN11	.	.	.	.	.	.	.	.	.	.	12	112419116	112419116	C	T	exonic	PTPN11	.	nonsynonymous SNV	PTPN11:NM_002834:exon1:c.C5T:p.T2I,PTPN11:NM_080601:exon1:c.C5T:p.T2I	12q24.13	.	rs267606990	0.044	D	0.191	B	0.109	B	.	.	0.999	D	1.075	L	2.87	T	-0.18	N	0.806	4.094	23.7	0.993	0.581	D	-0.683	T	0.231	T	0.442	0	3.82	0.853	0.856	1.000	1.000	12.147	Tolerated
1145	12	112446385	A	G	Pathogenic	PTPN11	.	.	.	.	.	.	.	.	.	.	12	112446385	112446385	A	G	exonic	PTPN11	.	nonsynonymous SNV	PTPN11:NM_002834:exon2:c.A124G:p.T42A,PTPN11:NM_080601:exon2:c.A124G:p.T42A	12q24.13	.	rs397507501	0.115	T	0.75	P	0.475	P	0.000	D	1	D	0.485	N	-2.54	D	-3.31	D	0.796	2.848	21.6	0.998	0.975	D	0.038	D	0.518	D	0.732	0	4.77	1.062	1.199	0.999	0.978	12.300	Deleterious
1146	12	112450352	A	G	Pathogenic	PTPN11	.	.	.	.	.	.	.	.	.	.	12	112450352	112450352	A	G	exonic	PTPN11	.	nonsynonymous SNV	PTPN11:NM_002834:exon3:c.A172G:p.N58D,PTPN11:NM_080601:exon3:c.A172G:p.N58D	12q24.13	.	rs397507505	0.018	D	0.998	D	0.98	D	0.000	D	1	D	1.62	L	-2.39	D	-4.31	D	0.379	5.848	27.3	0.998	0.993	D	0.641	D	0.763	D	0.722	0	5.63	1.062	1.193	1.000	1.000	15.855	Deleterious
1147	12	112450352	A	C	Pathogenic	PTPN11	.	.	.	.	.	.	.	.	.	.	12	112450352	112450352	A	C	exonic	PTPN11	.	nonsynonymous SNV	PTPN11:NM_002834:exon3:c.A172C:p.N58H,PTPN11:NM_080601:exon3:c.A172C:p.N58H	12q24.13	.	rs397507505	0.041	D	0.998	D	0.838	P	0.000	D	1	D	1.82	L	-2.42	D	-4.31	D	0.528	5.095	25.3	0.997	0.994	D	0.615	D	0.746	D	0.722	0	5.63	1.062	1.193	1.000	1.000	15.855	Deleterious
1148	12	112450354	C	G	Pathogenic/Likely pathogenic	PTPN11	.	.	.	.	.	.	.	.	.	.	12	112450354	112450354	C	G	exonic	PTPN11	.	nonsynonymous SNV	PTPN11:NM_002834:exon3:c.C174G:p.N58K,PTPN11:NM_080601:exon3:c.C174G:p.N58K	12q24.13	.	rs397507506	0.005	D	1.0	D	0.992	D	0.000	D	1.000	D	1.41	L	-2.29	D	-5.18	D	0.328	5.971	27.7	0.998	0.963	D	0.262	D	0.662	D	0.722	0	3.79	0.033	0.931	0.999	1.000	9.885	Deleterious
1149	12	112450354	C	A	Pathogenic	PTPN11	.	.	.	.	.	.	.	.	.	.	12	112450354	112450354	C	A	exonic	PTPN11	.	nonsynonymous SNV	PTPN11:NM_002834:exon3:c.C174A:p.N58K,PTPN11:NM_080601:exon3:c.C174A:p.N58K	12q24.13	.	rs397507506	0.005	D	1.0	D	0.992	D	0.000	D	1.000	D	1.41	L	-2.29	D	-5.18	D	0.328	6.408	29.6	0.998	0.960	D	0.262	D	0.662	D	0.722	0	3.79	0.033	0.931	0.999	1.000	9.885	Deleterious
1150	12	112450358	G	T	Pathogenic	PTPN11	.	.	.	.	.	.	.	.	.	.	12	112450358	112450358	G	T	exonic	PTPN11	.	nonsynonymous SNV	PTPN11:NM_002834:exon3:c.G178T:p.G60C,PTPN11:NM_080601:exon3:c.G178T:p.G60C	12q24.13	.	rs397507507	0.0	D	1.0	D	1.0	D	0.000	D	1	D	4.24	H	-4.15	D	-7.57	D	0.959	6.618	32	0.997	0.995	D	1.083	D	0.968	D	0.722	0	5.63	0.917	1.044	0.999	1.000	19.698	Deleterious
1151	12	112450358	G	A	Pathogenic/Likely pathogenic	PTPN11	.	.	.	.	.	.	.	.	.	.	12	112450358	112450358	G	A	exonic	PTPN11	.	nonsynonymous SNV	PTPN11:NM_002834:exon3:c.G178A:p.G60S,PTPN11:NM_080601:exon3:c.G178A:p.G60S	12q24.13	.	rs397507507	0.003	D	0.997	D	0.995	D	0.000	D	1	D	1.96	M	-4.03	D	-4.88	D	0.924	6.623	32	0.999	0.994	D	1.052	D	0.927	D	0.722	0	5.63	0.917	1.044	0.999	1.000	19.698	Deleterious
1152	12	112450359	G	C	Pathogenic	PTPN11	.	.	.	.	.	.	.	.	.	.	12	112450359	112450359	G	C	exonic	PTPN11	.	nonsynonymous SNV	PTPN11:NM_002834:exon3:c.G179C:p.G60A,PTPN11:NM_080601:exon3:c.G179C:p.G60A	12q24.13	.	rs397507509	0.014	D	0.999	D	0.989	D	0.000	D	1	D	2.265	M	-4.06	D	-4.91	D	0.909	5.820	27.2	0.999	0.994	D	1.050	D	0.936	D	0.722	0	5.9	0.917	1.044	0.997	0.999	20.279	Deleterious
1153	12	112450361	G	A	Pathogenic	PTPN11	.	.	.	.	.	.	.	.	.	.	12	112450361	112450361	G	A	exonic	PTPN11	.	nonsynonymous SNV	PTPN11:NM_002834:exon3:c.G181A:p.D61N,PTPN11:NM_080601:exon3:c.G181A:p.D61N	12q24.13	.	rs397507510	0.002	D	0.998	D	0.986	D	0.000	D	1	D	1.185	L	-3.97	D	-3.91	D	0.186	6.855	33	0.999	0.993	D	0.992	D	0.905	D	0.722	0	5.9	0.917	1.044	0.995	0.998	20.279	Deleterious
1154	12	112450362	A	G	Pathogenic	PTPN11	.	.	.	.	.	.	.	.	.	.	12	112450362	112450362	A	G	exonic	PTPN11	.	nonsynonymous SNV	PTPN11:NM_002834:exon3:c.A182G:p.D61G,PTPN11:NM_080601:exon3:c.A182G:p.D61G	12q24.13	.	rs121918461	0.031	D	0.908	P	0.79	P	0.000	N	1	A	-0.005	N	-3.78	D	-5.64	D	0.979	6.333	29.3	0.998	0.991	D	0.866	D	0.793	D	0.722	0	5.9	1.062	1.193	0.995	0.998	16.329	Deleterious
1155	12	112450364	T	G	Pathogenic	PTPN11	.	.	.	.	.	.	.	.	.	.	12	112450364	112450364	T	G	exonic	PTPN11	.	nonsynonymous SNV	PTPN11:NM_002834:exon3:c.T184G:p.Y62D,PTPN11:NM_080601:exon3:c.T184G:p.Y62D	12q24.13	.	rs121918460	0.011	D	0.994	D	0.932	D	0.000	D	1	A	2.73	M	-2.32	D	-7.24	D	0.988	6.213	28.7	0.992	0.988	D	0.755	D	0.797	D	0.722	0	5.9	0.991	1.057	0.997	0.998	16.329	Deleterious
1156	12	112450368	A	G	Pathogenic	PTPN11	.	.	.	.	.	.	.	.	.	.	12	112450368	112450368	A	G	exonic	PTPN11	.	nonsynonymous SNV	PTPN11:NM_002834:exon3:c.A188G:p.Y63C,PTPN11:NM_080601:exon3:c.A188G:p.Y63C	12q24.13	.	rs121918459	0.0	D	1.0	D	0.998	D	0.000	D	1	A	3.55	H	-2.68	D	-7.07	D	0.968	5.985	27.8	0.998	0.990	D	1.024	D	0.892	D	0.722	0	5.63	1.062	1.193	1.000	1.000	15.855	Deleterious
1157	12	112450385	G	C	Pathogenic	PTPN11	.	.	.	.	.	.	.	.	.	.	12	112450385	112450385	G	C	exonic	PTPN11	.	nonsynonymous SNV	PTPN11:NM_002834:exon3:c.G205C:p.E69Q,PTPN11:NM_080601:exon3:c.G205C:p.E69Q	12q24.13	.	rs397507511	0.002	D	1.0	D	0.986	D	0.000	D	1	D	1.55	L	-2.41	D	-2.57	D	0.846	5.384	25.9	0.997	0.992	D	0.538	D	0.753	D	0.722	0	5.01	0.917	1.044	0.999	0.999	14.802	Deleterious
1158	12	112450389	A	G	Pathogenic/Likely pathogenic	PTPN11	.	.	.	.	.	.	.	.	.	.	12	112450389	112450389	A	G	exonic	PTPN11	.	nonsynonymous SNV	PTPN11:NM_002834:exon3:c.A209G:p.K70R,PTPN11:NM_080601:exon3:c.A209G:p.K70R	12q24.13	.	rs397516801	0.038	D	0.945	P	0.655	P	0.000	D	1	D	1.545	L	-2.43	D	-2.09	N	0.613	5.873	27.4	0.999	0.991	D	0.395	D	0.687	D	0.722	0	5.9	1.062	1.193	0.998	1.000	16.329	Deleterious
1159	12	112450391	T	C	Pathogenic/Likely pathogenic	PTPN11	.	.	.	.	.	.	.	.	.	.	12	112450391	112450391	T	C	exonic	PTPN11	.	nonsynonymous SNV	PTPN11:NM_002834:exon3:c.T211C:p.F71L,PTPN11:NM_080601:exon3:c.T211C:p.F71L	12q24.13	.	rs397507512	0.0	D	1.0	D	0.99	D	0.000	D	1	D	3.78	H	-4.86	D	-5.18	D	0.949	6.494	31	0.999	0.985	D	1.072	D	0.976	D	0.722	0	5.9	0.991	1.057	1.000	1.000	16.329	Deleterious
1160	12	112450394	G	C	Pathogenic/Likely pathogenic	PTPN11	.	.	.	.	.	.	.	.	.	.	12	112450394	112450394	G	C	exonic	PTPN11	.	nonsynonymous SNV	PTPN11:NM_002834:exon3:c.G214C:p.A72P,PTPN11:NM_080601:exon3:c.G214C:p.A72P	12q24.13	.	rs121918453	0.04	D	0.91	P	0.579	P	0.000	D	1	D	0.85	L	-3.95	D	-4.31	D	0.957	5.867	27.3	0.998	0.992	D	0.787	D	0.823	D	0.722	0	5.01	0.917	1.044	1.000	1.000	14.802	Deleterious
1161	12	112450394	G	T	Pathogenic	PTPN11	.	.	.	.	.	.	.	.	.	.	12	112450394	112450394	G	T	exonic	PTPN11	.	nonsynonymous SNV	PTPN11:NM_002834:exon3:c.G214T:p.A72S,PTPN11:NM_080601:exon3:c.G214T:p.A72S	12q24.13	.	rs121918453	0.007	D	0.903	P	0.83	P	0.000	D	1	A	0.905	L	-3.95	D	-2.59	D	0.851	5.765	27.0	0.997	0.991	D	0.961	D	0.865	D	0.722	0	5.01	0.917	1.044	1.000	1.000	14.802	Deleterious
1162	12	112450395	C	G	Pathogenic	PTPN11	.	.	.	.	.	.	.	.	.	.	12	112450395	112450395	C	G	exonic	PTPN11	.	nonsynonymous SNV	PTPN11:NM_002834:exon3:c.C215G:p.A72G,PTPN11:NM_080601:exon3:c.C215G:p.A72G	12q24.13	.	rs121918454	0.048	D	0.988	D	0.924	D	0.000	D	1	A	1.52	L	-4.0	D	-3.45	D	0.88	6.090	28.2	0.998	0.987	D	1.037	D	0.896	D	0.722	0	5.01	0.871	0.931	1.000	1.000	14.802	Deleterious
1163	12	112450398	C	T	Pathogenic	PTPN11	.	.	.	.	.	.	.	.	.	.	12	112450398	112450398	C	T	exonic	PTPN11	.	nonsynonymous SNV	PTPN11:NM_002834:exon3:c.C218T:p.T73I,PTPN11:NM_080601:exon3:c.C218T:p.T73I	12q24.13	.	rs121918462	0.001	D	0.999	D	0.984	D	0.000	D	1	A	3.675	H	-4.24	D	-5.04	D	0.939	6.617	32	0.999	0.986	D	1.086	D	0.967	D	0.722	0	5.9	0.871	0.931	0.994	0.998	20.279	Deleterious
1164	12	112450407	A	G	Pathogenic	PTPN11	.	.	.	.	.	.	.	.	.	.	12	112450407	112450407	A	G	exonic	PTPN11	.	nonsynonymous SNV	PTPN11:NM_002834:exon3:c.A227G:p.E76G,PTPN11:NM_080601:exon3:c.A227G:p.E76G	12q24.13	.	rs121918465	0.002	D	0.99	D	0.734	P	0.000	D	1	D	3.575	H	-4.31	D	-6.04	D	0.909	6.621	32	0.999	0.991	D	1.091	D	0.949	D	0.722	0	5.9	1.062	1.193	0.998	0.994	16.329	Deleterious
1165	12	112450408	G	C	Pathogenic	PTPN11	.	.	.	.	.	.	.	.	.	.	12	112450408	112450408	G	C	exonic	PTPN11	.	nonsynonymous SNV	PTPN11:NM_002834:exon3:c.G228C:p.E76D,PTPN11:NM_080601:exon3:c.G228C:p.E76D	12q24.13	.	rs397507514	0.022	D	0.563	P	0.31	B	0.000	D	1.000	D	1.38	L	-4.13	D	-2.59	D	0.84	5.097	25.3	0.997	0.959	D	0.293	D	0.777	D	0.722	0	1.86	0.034	-0.193	0.996	0.987	8.533	Deleterious
1166	12	112450408	G	T	Pathogenic	PTPN11	.	.	.	.	.	.	.	.	.	.	12	112450408	112450408	G	T	exonic	PTPN11	.	nonsynonymous SNV	PTPN11:NM_002834:exon3:c.G228T:p.E76D,PTPN11:NM_080601:exon3:c.G228T:p.E76D	12q24.13	.	rs397507514	0.022	D	0.563	P	0.31	B	0.000	D	1.000	D	1.38	L	-4.13	D	-2.59	D	0.84	5.243	25.6	0.997	0.952	D	0.293	D	0.777	D	0.722	0	1.86	0.034	-0.193	0.996	0.987	8.533	Deleterious
1167	12	112450416	A	G	Pathogenic	PTPN11	.	.	.	.	.	.	.	.	.	.	12	112450416	112450416	A	G	exonic	PTPN11	.	nonsynonymous SNV	PTPN11:NM_002834:exon3:c.A236G:p.Q79R,PTPN11:NM_080601:exon3:c.A236G:p.Q79R	12q24.13	.	rs121918466	0.004	D	0.959	D	0.774	P	0.000	D	1	A	1.345	L	-3.99	D	-3.0	D	0.92	5.672	26.7	0.999	0.991	D	0.977	D	0.880	D	0.722	0	5.9	1.062	1.193	0.999	0.998	16.329	Deleterious
1168	12	112450497	A	C	Pathogenic	PTPN11	.	.	.	.	.	.	.	.	.	.	12	112450497	112450497	A	C	exonic	PTPN11	.	nonsynonymous SNV	PTPN11:NM_002834:exon3:c.A317C:p.D106A,PTPN11:NM_080601:exon3:c.A317C:p.D106A	12q24.13	.	rs397507517	0.075	T	0.978	D	0.651	P	0.000	D	1	D	2.63	M	-4.0	D	-6.73	D	0.903	6.143	28.4	0.995	0.996	D	1.012	D	0.909	D	0.722	0	6.05	1.062	1.199	1.000	1.000	16.593	Deleterious
1169	12	112450508	G	A	Pathogenic	PTPN11	.	.	.	.	.	.	.	.	.	.	12	112450508	112450508	G	A	exonic	PTPN11	.	nonsynonymous SNV	PTPN11:NM_002834:exon3:c.G328A:p.E110K,PTPN11:NM_080601:exon3:c.G328A:p.E110K	12q24.13	.	rs397507518	0.003	D	0.997	D	0.956	D	0.000	D	1	D	2.705	M	2.74	T	-3.58	D	0.963	7.343	34	0.999	0.999	D	0.320	D	0.639	D	0.722	0	6.05	0.917	1.048	1.000	1.000	20.601	Deleterious
1170	12	112453279	G	C	Pathogenic	PTPN11	.	.	.	.	.	.	.	.	.	.	12	112453279	112453279	G	C	exonic	PTPN11	.	nonsynonymous SNV	PTPN11:NM_002834:exon4:c.G417C:p.E139D,PTPN11:NM_080601:exon4:c.G417C:p.E139D	12q24.13	.	rs397507520	0.009	D	0.992	D	0.949	D	0.000	D	1	D	1.5	L	-2.55	D	-2.42	N	0.877	5.878	27.4	0.999	0.961	D	0.440	D	0.709	D	0.732	0	4.55	-0.381	0.137	0.963	0.999	9.519	Deleterious
1171	12	112453279	G	T	Pathogenic	PTPN11	.	.	.	.	.	.	.	.	.	.	12	112453279	112453279	G	T	exonic	PTPN11	.	nonsynonymous SNV	PTPN11:NM_002834:exon4:c.G417T:p.E139D,PTPN11:NM_080601:exon4:c.G417T:p.E139D	12q24.13	.	rs397507520	0.009	D	0.992	D	0.949	D	0.000	D	1	D	1.5	L	-2.55	D	-2.42	N	0.877	6.052	28.0	0.999	0.956	D	0.440	D	0.709	D	0.732	0	4.55	-0.381	0.137	0.963	0.999	9.519	Deleterious
0	1	2228866	G	T	Pathogenic	SKI	.	.	.	.	.	.	.	.	.	.	1	2228866	2228866	G	T	exonic	SKI	.	nonsynonymous SNV	SKI:NM_003036:exon1:c.G100T:p.G34C	1p36.33	.	rs387907306	0.0	D	1.0	D	1.0	D	0.000	U	1.000	D	1.24	L	-5.66	D	-7.11	D	0.84	4.766	24.7	0.996	0.903	D	1.029	D	0.956	D	0.767	0	1.29	0.609	0.731	0.999	1.000	10.417	Deleterious
148	1	161323636	C	T	Pathogenic	SDHC	.	.	.	.	.	.	.	.	.	.	1	161323636	161323636	C	T	exonic	SDHC	.	stopgain	SDHC:NM_001035511:exon2:c.C43T:p.R15X,SDHC:NM_001035512:exon2:c.C43T:p.R15X,SDHC:NM_001278172:exon2:c.C43T:p.R15X,SDHC:NM_003001:exon2:c.C43T:p.R15X	1q23.3	.	rs201286421	.	.	.	.	.	.	0.089	N	1	A	.	.	.	.	.	.	.	10.731	36	0.998	0.854	D	.	.	.	.	0.732	0	4.6	0.871	0.931	0.999	0.989	11.902	Deleterious (FATHMM)
169	1	209625919	C	T	Pathogenic/Likely pathogenic	LAMB3	.	.	.	.	.	.	.	.	.	.	1	209625919	209625919	C	T	exonic	LAMB3	.	synonymous SNV	LAMB3:NM_001017402:exon13:c.C1705A:p.R569R,LAMB3:NM_000228:exon14:c.C1705A:p.R569R,LAMB3:NM_001127641:exon14:c.C1705A:p.R569R	1q32.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
167	1	201365630	G	A	Pathogenic/Likely pathogenic	TNNT2	.	.	.	.	.	.	.	.	.	.	1	201365630	201365630	G	A	exonic	TNNT2	.	stopgain	TNNT2:NM_001001432:exon7:c.G229T:p.G77X,TNNT2:NM_001001430:exon8:c.G244T:p.G82X,TNNT2:NM_001001431:exon8:c.G244T:p.G82X,TNNT2:NM_001276347:exon8:c.G244T:p.G82X,TNNT2:NM_000364:exon9:c.G274T:p.G92X,TNNT2:NM_001276345:exon9:c.G274T:p.G92X,TNNT2:NM_001276346:exon9:c.G271T:p.G91X	1q32.1	.	.	.	.	.	.	.	.	0.000	D	1	A	.	.	.	.	.	.	.	12.034	38	0.994	0.995	D	.	.	.	.	0.706	0	4.68	0.871	0.014	0.997	0.855	17.549	Deleterious (FATHMM)
168	1	201365638	T	A	Pathogenic/Likely pathogenic	TNNT2	.	.	.	.	.	.	.	.	.	.	1	201365638	201365638	T	A	exonic	TNNT2	.	synonymous SNV	TNNT2:NM_001001432:exon7:c.T221T:p.I74I,TNNT2:NM_001001430:exon8:c.T236T:p.I79I,TNNT2:NM_001001431:exon8:c.T236T:p.I79I,TNNT2:NM_001276347:exon8:c.T236T:p.I79I,TNNT2:NM_000364:exon9:c.T266T:p.I89I,TNNT2:NM_001276345:exon9:c.T266T:p.I89I,TNNT2:NM_001276346:exon9:c.T263T:p.I88I	1q32.1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
165	1	201365297	G	A	Pathogenic/Likely pathogenic	TNNT2	.	.	.	.	.	.	.	.	.	.	1	201365297	201365297	G	A	exonic	TNNT2	.	nonsynonymous SNV	TNNT2:NM_001001432:exon8:c.G260T:p.R87L,TNNT2:NM_001001430:exon9:c.G275T:p.R92L,TNNT2:NM_001001431:exon9:c.G275T:p.R92L,TNNT2:NM_001276347:exon9:c.G275T:p.R92L,TNNT2:NM_000364:exon10:c.G305T:p.R102L,TNNT2:NM_001276345:exon10:c.G305T:p.R102L	1q32.1	.	.	0.001	D	1.0	D	0.998	D	0.000	D	1	D	1.57	L	-5.46	D	-5.63	D	0.955	7.836	35	0.999	0.957	D	1.125	D	0.965	D	0.626	0	5.02	0.871	0.014	1.000	0.991	18.347	Deleterious
166	1	201365298	C	T	Pathogenic/Likely pathogenic	TNNT2	.	.	.	.	.	.	.	.	.	.	1	201365298	201365298	C	T	exonic	TNNT2	.	synonymous SNV	TNNT2:NM_001001432:exon8:c.C259A:p.R87R,TNNT2:NM_001001430:exon9:c.C274A:p.R92R,TNNT2:NM_001001431:exon9:c.C274A:p.R92R,TNNT2:NM_001276347:exon9:c.C274A:p.R92R,TNNT2:NM_000364:exon10:c.C304A:p.R102R,TNNT2:NM_001276345:exon10:c.C304A:p.R102R	1q32.1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
163	1	201365291	G	A	Pathogenic/Likely pathogenic	TNNT2	.	.	.	.	.	.	.	.	.	.	1	201365291	201365291	G	A	exonic	TNNT2	.	nonsynonymous SNV	TNNT2:NM_001001432:exon8:c.G266T:p.R89L,TNNT2:NM_001001430:exon9:c.G281T:p.R94L,TNNT2:NM_001001431:exon9:c.G281T:p.R94L,TNNT2:NM_001276347:exon9:c.G281T:p.R94L,TNNT2:NM_000364:exon10:c.G311T:p.R104L,TNNT2:NM_001276345:exon10:c.G311T:p.R104L	1q32.1	.	rs397516457	0.001	D	1.0	D	1.0	D	0.000	D	1	D	3.225	M	-5.46	D	-6.52	D	0.988	8.173	35	0.999	0.981	D	1.063	D	0.980	D	0.626	0	5.02	0.871	0.014	1.000	0.998	18.347	Deleterious
164	1	201365292	C	T	Pathogenic/Likely pathogenic	TNNT2	.	.	.	.	.	.	.	.	.	.	1	201365292	201365292	C	T	exonic	TNNT2	.	nonsynonymous SNV	TNNT2:NM_001001432:exon8:c.C265A:p.R89S,TNNT2:NM_001001430:exon9:c.C280A:p.R94S,TNNT2:NM_001001431:exon9:c.C280A:p.R94S,TNNT2:NM_001276347:exon9:c.C280A:p.R94S,TNNT2:NM_000364:exon10:c.C310A:p.R104S,TNNT2:NM_001276345:exon10:c.C310A:p.R104S	1q32.1	.	.	0.001	D	1.0	D	1.0	D	0.000	D	1	D	3.225	M	-5.43	D	-5.59	D	0.992	7.298	34	0.998	0.947	D	1.063	D	0.980	D	0.626	0	5.02	0.917	0.953	1.000	0.998	18.347	Deleterious
161	1	201364336	C	T	Pathogenic/Likely pathogenic	TNNT2	.	.	.	.	.	.	.	.	.	.	1	201364336	201364336	C	T	exonic	TNNT2	.	synonymous SNV	TNNT2:NM_001001432:exon9:c.C406A:p.R136R,TNNT2:NM_001001430:exon10:c.C421A:p.R141R,TNNT2:NM_001001431:exon10:c.C421A:p.R141R,TNNT2:NM_001276346:exon10:c.C331A:p.R111R,TNNT2:NM_001276347:exon10:c.C421A:p.R141R,TNNT2:NM_000364:exon11:c.C451A:p.R151R,TNNT2:NM_001276345:exon11:c.C451A:p.R151R	1q32.1	.	rs74315379	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
162	1	201365242	T	G	Pathogenic/Likely pathogenic	TNNT2	.	.	.	.	.	.	.	.	.	.	1	201365242	201365242	T	G	exonic	TNNT2	.	synonymous SNV	TNNT2:NM_001001432:exon8:c.T315C:p.F105F,TNNT2:NM_001001430:exon9:c.T330C:p.F110F,TNNT2:NM_001001431:exon9:c.T330C:p.F110F,TNNT2:NM_001276347:exon9:c.T330C:p.F110F,TNNT2:NM_000364:exon10:c.T360C:p.F120F,TNNT2:NM_001276345:exon10:c.T360C:p.F120F	1q32.1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
159	1	197435170	G	A	Pathogenic	CRB1	.	.	.	.	.	.	.	.	.	.	1	197435170	197435170	G	A	exonic	CRB1	.	nonsynonymous SNV	CRB1:NM_001193640:exon7:c.G2971A:p.G991R,CRB1:NM_201253:exon9:c.G3307A:p.G1103R,CRB1:NM_001257965:exon12:c.G3235A:p.G1079R	1q31.3	.	rs62636275	0.002	D	0.999	D	0.929	D	.	.	1.000	A	1.965	M	-0.44	T	-5.99	D	0.77	4.553	24.4	0.992	0.052	N	-0.201	T	0.372	T	0.487	0	-3.14	-0.011	0.135	0.929	0.993	13.146	Tolerated
160	1	201359217	G	A	Pathogenic/Likely pathogenic	TNNT2	.	.	.	.	.	.	.	.	.	.	1	201359217	201359217	G	A	exonic	TNNT2	.	nonsynonymous SNV	TNNT2:NM_001001432:exon14:c.G842T:p.W281L,TNNT2:NM_001001431:exon15:c.G851T:p.W284L,TNNT2:NM_001276346:exon15:c.G761T:p.W254L,TNNT2:NM_000364:exon16:c.G881T:p.W294L,TNNT2:NM_001001430:exon16:c.G860T:p.W287L,TNNT2:NM_001276347:exon16:c.G860T:p.W287L,TNNT2:NM_001276345:exon17:c.G890T:p.W297L	1q32.1	.	.	0.027	D	0.058	B	0.038	B	0.031	N	1.000	D	1.365	L	2.94	T	-5.14	D	0.631	6.941	33	0.969	0.983	D	-1.089	T	0.034	T	0.718	0	3.98	0.871	0.888	0.997	0.997	13.363	Tolerated
157	1	197133348	T	C	Pathogenic	ASPM	.	.	.	.	.	.	.	.	.	.	1	197133348	197133348	T	C	splicing	ASPM	NM_001206846:exon6:c.2419+2A>G,NM_018136:exon6:c.2419+2A>G	.	.	1q31.3	.	.	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	4.990	25.1	0.994	0.992	D	.	.	.	.	0.106	0	5.27	1.062	1.199	0.996	0.993	15.493	Deleterious (FATHMM)
158	1	197143114	C	T	Pathogenic/Likely pathogenic	ASPM	.	.	.	.	.	.	.	.	.	.	1	197143114	197143114	C	T	exonic	ASPM	.	nonsynonymous SNV	ASPM:NM_001206846:exon3:c.C1138A:p.Q380K,ASPM:NM_018136:exon3:c.C1138A:p.Q380K	1q31.3	.	rs587783215	0.849	T	0.004	B	0.002	B	0.224	N	1	N	1.295	L	1.75	T	-0.4	N	0.099	0.546	7.775	0.873	0.038	N	-1.014	T	0.081	T	0.651	0	0.697	-0.714	0.038	0.038	0.441	4.479	Tolerated
155	1	197091032	C	T	Pathogenic	ASPM	.	.	.	.	.	.	.	.	.	.	1	197091032	197091032	C	T	exonic	ASPM	.	synonymous SNV	ASPM:NM_001206846:exon22:c.C4699A:p.R1567R,ASPM:NM_018136:exon23:c.C9454A:p.R3152R	1q31.3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
156	1	197093168	C	T	Pathogenic	ASPM	.	.	.	.	.	.	.	.	.	.	1	197093168	197093168	C	T	exonic	ASPM	.	nonsynonymous SNV	ASPM:NM_001206846:exon20:c.C4423A:p.Q1475K,ASPM:NM_018136:exon21:c.C9178A:p.Q3060K	1q31.3	.	.	0.019	D	0.997	D	0.976	D	0.009	N	0.990	D	3.2	M	-0.83	T	-1.84	N	0.708	3.946	23.6	0.994	0.954	D	0.999	D	0.942	D	0.732	0	3.22	0.917	0.998	0.878	0.996	6.296	Deleterious
153	1	197090295	C	T	Pathogenic	ASPM	.	.	.	.	.	.	.	.	.	.	1	197090295	197090295	C	T	exonic	ASPM	.	synonymous SNV	ASPM:NM_001206846:exon23:c.C4975A:p.R1659R,ASPM:NM_018136:exon24:c.C9730A:p.R3244R	1q31.3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
154	1	197090328	C	T	Pathogenic	ASPM	.	.	.	.	.	.	.	.	.	.	1	197090328	197090328	C	T	exonic	ASPM	.	synonymous SNV	ASPM:NM_001206846:exon23:c.C4942A:p.R1648R,ASPM:NM_018136:exon24:c.C9697A:p.R3233R	1q31.3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
151	1	179561327	G	A	Pathogenic	NPHS2	.	.	.	.	.	.	.	.	.	.	1	179561327	179561327	G	A	exonic	NPHS2	.	nonsynonymous SNV	NPHS2:NM_001297575:exon3:c.G413T:p.R138L,NPHS2:NM_014625:exon3:c.G413T:p.R138L	1q25.2	.	.	0.0	D	1.0	D	0.999	D	0.000	D	1	D	2.675	M	-3.85	D	-6.72	D	0.948	7.700	35	0.996	0.976	D	1.057	D	0.986	D	0.487	0	5.82	0.871	0.935	0.999	0.998	18.678	Deleterious
152	1	197090004	C	T	Pathogenic	ASPM	.	.	.	.	.	.	.	.	.	.	1	197090004	197090004	C	T	exonic	ASPM	.	synonymous SNV	ASPM:NM_001206846:exon24:c.C5155A:p.R1719R,ASPM:NM_018136:exon25:c.C9910A:p.R3304R	1q31.3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
149	1	161356832	C	T	Pathogenic	SDHC	.	.	.	.	.	.	.	.	.	.	1	161356832	161356832	C	T	exonic	SDHC	.	stopgain	SDHC:NM_001035513:exon3:c.C238T:p.R80X,SDHC:NM_001035512:exon4:c.C295T:p.R99X,SDHC:NM_003001:exon5:c.C397T:p.R133X	1q23.3	.	rs764575966	.	.	.	.	.	.	0.000	D	1	D	.	.	.	.	.	.	.	14.753	47	0.998	0.748	D	.	.	.	.	0.722	0	5.24	0.868	0.841	1.000	0.996	16.695	Deleterious (FATHMM)
150	1	173831632	T	C	Pathogenic	DARS2	.	.	.	.	.	.	.	.	.	.	1	173831632	173831632	T	C	splicing	DARS2	NM_018122:exon5:c.492+2T>C	.	.	1q25.1	0.0002	rs142433332	.	.	.	.	.	.	.	.	1	A	.	.	.	.	.	.	.	4.772	24.7	0.992	0.975	D	.	.	.	.	0.106	0	5.77	0.991	1.061	0.823	0.839	15.376	Deleterious (FATHMM)
1	1	2228866	G	A	Pathogenic	SKI	.	.	.	.	.	.	.	.	.	.	1	2228866	2228866	G	A	exonic	SKI	.	nonsynonymous SNV	SKI:NM_003036:exon1:c.G100A:p.G34S	1p36.33	.	rs387907306	0.0	D	1.0	D	0.997	D	0.000	U	1.000	D	1.24	L	-5.62	D	-4.71	D	0.831	3.114	22.5	0.994	0.863	D	1.029	D	0.956	D	0.767	0	1.29	0.609	0.731	0.999	1.000	10.417	Deleterious
2	1	9726972	G	A	Pathogenic	PIK3CD	.	.	.	.	.	.	.	.	.	.	1	9726972	9726972	G	A	exonic	PIK3CD	.	nonsynonymous SNV	PIK3CD:NM_005026:exon24:c.G3061A:p.E1021K	1p36.22	.	rs397518423	0.002	D	1.0	D	0.984	D	0.000	D	1.000	D	1.69	L	-1.49	T	-3.51	D	0.701	6.502	31	0.994	0.974	D	0.233	D	0.593	D	0.672	0	3.72	0.917	0.949	0.985	0.993	14.041	Deleterious
3	1	11992606	T	C	Pathogenic	MFN2	.	.	.	.	.	.	.	.	.	.	1	11992606	11992606	T	C	exonic	MFN2	.	nonsynonymous SNV	MFN2:NM_001127660:exon3:c.T227C:p.L76P,MFN2:NM_014874:exon4:c.T227C:p.L76P	1p36.22	.	rs28940293	0.257	T	0.74	P	0.243	B	0.009	N	1	D	1.65	L	-3.61	D	-1.66	N	0.868	2.449	19.14	0.993	0.886	D	1.040	D	0.925	D	0.707	0	5.39	0.991	1.061	0.996	1.000	14.586	Deleterious
4	1	11992659	C	T	Pathogenic	MFN2	.	.	.	.	.	.	.	.	.	.	1	11992659	11992659	C	T	exonic	MFN2	.	nonsynonymous SNV	MFN2:NM_001127660:exon3:c.C280T:p.R94W,MFN2:NM_014874:exon4:c.C280T:p.R94W	1p36.22	.	rs119103263	0.0	D	1.0	D	0.999	D	0.000	D	1	A	2.54	M	-3.78	D	-7.15	D	0.96	7.337	34	0.999	0.968	D	1.127	D	0.958	D	0.707	0	3.57	-0.639	-0.162	0.968	0.987	13.321	Deleterious
5	1	11992660	G	A	Pathogenic	MFN2	.	.	.	.	.	.	.	.	.	.	1	11992660	11992660	G	A	exonic	MFN2	.	nonsynonymous SNV	MFN2:NM_001127660:exon3:c.G281A:p.R94Q,MFN2:NM_014874:exon4:c.G281A:p.R94Q	1p36.22	.	rs28940291	0.0	D	1.0	D	0.99	D	0.000	D	1	A	2.54	M	-3.75	D	-3.39	D	0.873	6.487	30	1.000	0.996	D	1.096	D	0.962	D	0.707	0	5.4	0.917	1.048	0.983	0.988	18.154	Deleterious
6	1	11992689	C	T	Pathogenic	MFN2	.	.	.	.	.	.	.	.	.	.	1	11992689	11992689	C	T	exonic	MFN2	.	nonsynonymous SNV	MFN2:NM_001127660:exon3:c.C310T:p.R104W,MFN2:NM_014874:exon4:c.C310T:p.R104W	1p36.22	.	rs119103268	0.0	D	1.0	D	1.0	D	0.000	D	1	A	2.73	M	-4.18	D	-7.36	D	0.966	7.210	34	0.999	0.949	D	1.111	D	0.930	D	0.707	0	2.2	-0.058	0.935	0.960	0.989	12.635	Deleterious
7	1	11996158	C	T	Pathogenic	MFN2	.	.	.	.	.	.	.	.	.	.	1	11996158	11996158	C	T	exonic	MFN2	.	nonsynonymous SNV	MFN2:NM_001127660:exon4:c.C314T:p.T105M,MFN2:NM_014874:exon5:c.C314T:p.T105M	1p36.22	.	rs863224069	0.0	D	1.0	D	1.0	D	0.000	D	1	D	2.695	M	-4.13	D	-5.53	D	0.964	6.907	33	0.999	0.948	D	1.029	D	0.934	D	0.707	0	4.7	0.871	0.935	0.994	0.997	15.114	Deleterious
8	1	11997316	A	G	Pathogenic	MFN2	.	.	.	.	.	.	.	.	.	.	1	11997316	11997316	A	G	exonic	MFN2	.	nonsynonymous SNV	MFN2:NM_001127660:exon5:c.A494G:p.H165R,MFN2:NM_014874:exon6:c.A494G:p.H165R	1p36.22	.	rs863224970	0.001	D	1.0	D	0.991	D	0.000	D	1	D	1.735	L	-4.07	D	-5.63	D	0.949	5.419	26.0	0.996	0.968	D	0.950	D	0.906	D	0.707	0	5.3	1.062	1.187	1.000	0.954	14.462	Deleterious
9	1	12001423	G	A	Pathogenic	MFN2	.	.	.	.	.	.	.	.	.	.	1	12001423	12001423	G	A	exonic	MFN2	.	nonsynonymous SNV	MFN2:NM_001127660:exon8:c.G839A:p.R280H,MFN2:NM_014874:exon9:c.G839A:p.R280H	1p36.22	.	rs28940294	0.0	D	1.0	D	0.937	D	0.000	D	1	A	2.71	M	-3.71	D	-4.74	D	0.906	6.957	33	1.000	0.983	D	1.050	D	0.926	D	0.737	0	5.23	0.917	1.045	0.998	0.970	18.152	Deleterious
10	1	12002033	C	T	Pathogenic	MFN2	.	.	.	.	.	.	.	.	.	.	1	12002033	12002033	C	T	exonic	MFN2	.	nonsynonymous SNV	MFN2:NM_001127660:exon10:c.C1090T:p.R364W,MFN2:NM_014874:exon11:c.C1090T:p.R364W	1p36.22	.	rs119103265	0.0	D	1.0	D	0.976	D	0.000	D	1	A	2.625	M	-4.47	D	-6.35	D	0.921	7.424	34	0.999	0.890	D	1.133	D	0.932	D	0.707	0	4.7	0.871	0.935	1.000	0.997	7.566	Deleterious
11	1	12011510	G	C	Pathogenic/Likely pathogenic	MFN2	.	.	.	.	.	.	.	.	.	.	1	12011510	12011510	G	C	exonic	MFN2	.	nonsynonymous SNV	MFN2:NM_001127660:exon18:c.G2219C:p.W740S,MFN2:NM_014874:exon19:c.G2219C:p.W740S	1p36.22	.	rs28940292	0.11	T	0.346	B	0.326	B	0.000	D	1	A	1.5	L	-3.69	D	-4.55	D	0.979	5.777	27.0	0.981	0.985	D	0.576	D	0.819	D	0.707	0	5.3	0.917	0.998	0.999	0.995	18.112	Deleterious
12	1	17022648	G	A	Pathogenic	SDHB	.	.	.	.	.	.	.	.	.	.	1	17022648	17022648	G	A	exonic	SDHB	.	nonsynonymous SNV	SDHB:NM_003000:exon7:c.G725T:p.R242L	1p36.13	.	.	0.0	D	1.0	D	1.0	D	0.000	D	1	D	2.68	M	-5.03	D	-5.52	D	0.955	8.400	35	0.999	0.996	D	1.102	D	0.971	D	0.707	0	5.62	0.871	0.935	0.999	1.000	18.588	Deleterious
13	1	17022684	G	A	Pathogenic	SDHB	.	.	.	.	.	.	.	.	.	.	1	17022684	17022684	G	A	exonic	SDHB	.	nonsynonymous SNV	SDHB:NM_003000:exon7:c.G689T:p.R230L	1p36.13	.	rs587782604	0.0	D	1.0	D	0.996	D	0.000	D	1	D	3.735	H	-4.23	D	-5.86	D	0.985	8.195	35	0.999	0.995	D	1.092	D	0.967	D	0.707	0	5.51	0.871	0.935	0.999	1.000	18.337	Deleterious
14	1	17023975	C	T	Pathogenic	SDHB	.	.	.	.	.	.	.	.	.	.	1	17023975	17023975	C	T	exonic	SDHB	.	nonsynonymous SNV	SDHB:NM_003000:exon6:c.C640A:p.Q214K	1p36.13	.	.	0.001	D	0.999	D	0.993	D	0.000	D	1	D	2.075	M	-5.04	D	-3.46	D	0.927	6.447	29.8	0.995	0.997	D	1.112	D	0.964	D	0.732	0	5.49	0.917	0.902	0.995	0.981	18.301	Deleterious
15	1	17024076	A	G	Pathogenic/Likely pathogenic	SDHB	.	.	.	.	.	.	.	.	.	.	1	17024076	17024076	A	G	splicing	SDHB	NM_003000:exon6:c.541-2T>C	.	.	1p36.13	.	.	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	5.136	25.4	0.995	0.992	D	.	.	.	.	0.322	0	5.19	0.673	1.061	0.932	0.954	14.565	Deleterious (FATHMM)
16	1	17028599	G	A	Pathogenic	SDHB	.	.	.	.	.	.	.	.	.	.	1	17028599	17028599	G	A	splicing	SDHB	NM_003000:exon4:c.423+1C>T	.	.	1p36.13	.	.	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	6.622	32	0.995	0.989	D	.	.	.	.	0.295	0	6.17	0.871	0.935	0.975	0.997	19.443	Deleterious (FATHMM)
17	1	17028605	G	T	Pathogenic/Likely pathogenic	SDHB	.	.	.	.	.	.	.	.	.	.	1	17028605	17028605	G	T	exonic	SDHB	.	nonsynonymous SNV	SDHB:NM_003000:exon4:c.G418A:p.V140I	1p36.13	.	.	0.058	T	0.647	P	0.415	B	0.000	D	1	D	1.53	L	-5.11	D	-0.76	N	0.536	3.979	23.6	0.998	0.970	D	0.951	D	0.915	D	0.707	0	5.25	0.871	0.935	0.990	0.996	14.768	Deleterious
18	1	17028737	G	C	Pathogenic/Likely pathogenic	SDHB	.	.	.	.	.	.	.	.	.	.	1	17028737	17028737	G	C	splicing	SDHB	NM_003000:exon4:c.287-1C>G	.	.	1p36.13	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.
19	1	17033078	C	T	Pathogenic	SDHB	.	.	.	.	.	.	.	.	.	.	1	17033078	17033078	C	T	exonic	SDHB	.	synonymous SNV	SDHB:NM_003000:exon3:c.C268A:p.R90R	1p36.13	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
20	1	17044824	G	A	Pathogenic	SDHB	.	.	.	.	.	.	.	.	.	.	1	17044824	17044824	G	A	exonic	SDHB	.	nonsynonymous SNV	SDHB:NM_003000:exon2:c.G137T:p.R46L	1p36.13	.	.	0.0	D	1.0	D	1.0	D	0.000	D	1	D	4.57	H	-6.26	D	-5.51	D	0.962	8.108	35	0.999	0.982	D	0.949	D	0.993	D	0.706	0	5.65	0.871	0.935	0.999	0.999	18.456	Deleterious
21	1	17044825	C	T	Pathogenic	SDHB	.	.	.	.	.	.	.	.	.	.	1	17044825	17044825	C	T	exonic	SDHB	.	synonymous SNV	SDHB:NM_003000:exon2:c.C136A:p.R46R	1p36.13	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
22	1	17053947	G	T	Pathogenic	SDHB	.	.	.	.	.	.	.	.	.	.	1	17053947	17053947	G	T	splicing	SDHB	NM_003000:exon1:c.72+1C>A	.	.	1p36.13	.	.	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	5.516	26.3	0.994	0.692	D	.	.	.	.	0.090	0	5.13	0.871	0.935	0.860	0.375	14.092	Deleterious (FATHMM)
23	1	21563158	G	A	Pathogenic/Likely pathogenic	ALPL	.	.	.	.	.	.	.	.	.	.	1	21563158	21563158	G	A	exonic	ALPL	.	nonsynonymous SNV	ALPL:NM_001177520:exon3:c.G115A:p.A39T,ALPL:NM_001127501:exon4:c.G181A:p.A61T,ALPL:NM_000478:exon5:c.G346A:p.A116T	1p36.12	.	rs121918013	0.001	D	1.0	D	1.0	D	0.000	D	1	A	3.705	H	-5.18	D	-3.83	D	0.974	7.107	34	0.999	0.997	D	1.059	D	0.978	D	0.706	0	4.49	0.917	0.953	0.997	0.929	15.895	Deleterious
24	1	21563219	G	A	Pathogenic/Likely pathogenic	ALPL	.	.	.	.	.	.	.	.	.	.	1	21563219	21563219	G	A	exonic	ALPL	.	nonsynonymous SNV	ALPL:NM_001177520:exon3:c.G176A:p.R59H,ALPL:NM_001127501:exon4:c.G242A:p.R81H,ALPL:NM_000478:exon5:c.G407A:p.R136H	1p36.12	7.7e-05	rs121918011	0.515	T	1.0	D	0.994	D	0.000	D	1.000	A	1.87	L	-3.91	D	-0.19	N	0.827	4.796	24.8	0.978	0.969	D	0.805	D	0.885	D	0.706	0	4.32	0.917	0.953	0.015	0.135	15.528	Deleterious
25	1	21564139	G	A	Pathogenic	ALPL	.	.	.	.	.	.	.	.	.	.	1	21564139	21564139	G	A	exonic	ALPL	.	nonsynonymous SNV	ALPL:NM_001177520:exon4:c.G340A:p.E114K,ALPL:NM_001127501:exon5:c.G406A:p.E136K,ALPL:NM_000478:exon6:c.G571A:p.E191K	1p36.12	0.0008	rs121918007	0.164	T	0.973	D	0.548	P	0.000	D	1.000	A	1.395	L	-4.11	D	-2.16	N	0.938	6.320	29.2	0.999	0.979	D	0.894	D	0.843	D	0.718	0	5.17	0.917	0.953	1.000	0.997	17.215	Deleterious
26	1	21575868	A	T	Pathogenic	ALPL	.	.	.	.	.	.	.	.	.	.	1	21575868	21575868	A	T	exonic	ALPL	.	nonsynonymous SNV	ALPL:NM_001177520:exon8:c.A902T:p.D301V,ALPL:NM_001127501:exon9:c.A968T:p.D323V,ALPL:NM_000478:exon10:c.A1133T:p.D378V	1p36.12	.	rs121918008	0.0	D	1.0	D	1.0	D	0.000	D	1	A	4.545	H	-8.29	D	-8.51	D	0.975	5.975	27.7	0.995	0.991	D	0.913	D	0.998	D	0.635	0	4.91	1.062	1.199	0.992	0.954	12.512	Deleterious
27	1	21576582	A	G	Pathogenic/Likely pathogenic	ALPL	.	.	.	.	.	.	.	.	.	.	1	21576582	21576582	A	G	exonic	ALPL	.	nonsynonymous SNV	ALPL:NM_001177520:exon9:c.A1019G:p.N340S,ALPL:NM_001127501:exon10:c.A1085G:p.N362S,ALPL:NM_000478:exon11:c.A1250G:p.N417S	1p36.12	7.7e-05	rs121918014	0.018	D	1.0	D	1.0	D	0.000	D	1.000	A	3.14	M	-4.25	D	-4.68	D	0.168	5.625	26.6	0.999	0.995	D	1.116	D	0.951	D	0.635	0	5.13	1.062	1.194	0.993	0.993	12.944	Deleterious
28	1	23820545	G	T	Pathogenic	HMGCL	.	.	.	.	.	.	.	.	.	.	1	23820545	23820545	G	T	exonic	HMGCL	.	nonsynonymous SNV	HMGCL:NM_000191:exon2:c.G109A:p.E37K,HMGCL:NM_001166059:exon2:c.G109A:p.E37K	1p36.11	.	.	0.002	D	0.99	D	0.844	P	0.000	D	1	D	0	N	-5.18	D	-3.82	D	0.992	5.859	27.3	0.999	0.982	D	-0.958	T	0.138	T	0.732	0	5.27	0.871	0.934	0.998	1.000	17.893	Tolerated
29	1	25809753	G	A	Pathogenic	SELENON	.	.	.	.	.	.	.	.	.	.	1	25809753	25809753	G	A	exonic	SEPN1	.	unknown	UNKNOWN	1p36.11	0.0005	rs121908188	0.01	D	1.0	D	0.999	D	0.000	D	1	A	2.215	M	-3.89	D	-3.39	D	0.981	7.207	34	0.999	0.991	D	1.036	D	0.915	D	0.707	0	4.84	0.917	1.048	0.998	1.000	18.132	Deleterious
30	1	26795056	C	A	Pathogenic	PIGV	.	.	.	.	.	.	.	.	.	.	1	26795056	26795056	C	A	exonic	PIGV	.	nonsynonymous SNV	PIGV:NM_001202554:exon3:c.C1022A:p.A341E,PIGV:NM_017837:exon3:c.C1022A:p.A341E	1p36.11	0.0002	rs139073416	0.003	D	0.997	D	0.954	D	0.000	D	1	D	2.79	M	-1.99	D	-2.24	N	0.935	5.794	27.1	0.990	0.993	D	0.697	D	0.758	D	0.737	0	4.13	0.868	0.890	0.991	0.998	15.599	Deleterious
31	1	40089495	C	T	Pathogenic	PPT1	.	.	.	.	.	.	.	.	.	.	1	40089495	40089495	C	T	exonic	PPT1	.	synonymous SNV	PPT1:NM_001142604:exon2:c.C142A:p.R48R,PPT1:NM_000310:exon5:c.C451A:p.R151R	1p34.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
32	1	40097210	T	A	Pathogenic/Likely pathogenic	PPT1	.	.	.	.	.	.	.	.	.	.	1	40097210	40097210	T	A	exonic	PPT1	.	synonymous SNV	PPT1:NM_000310:exon1:c.T29T:p.L10L,PPT1:NM_001142604:exon1:c.T29T:p.L10L	1p34.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
33	1	42757782	G	T	Pathogenic	P3H1	.	.	.	.	.	.	.	.	.	.	1	42757782	42757782	G	T	splicing	P3H1	NM_022356:exon5:c.1080+1C>A,NM_001146289:exon5:c.1080+1C>A,NM_001243246:exon5:c.1080+1C>A	.	.	1p34.2	.	.	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	5.328	25.8	0.995	0.996	D	.	.	.	.	0.359	0	5.84	0.871	0.935	0.890	0.933	17.643	Deleterious (FATHMM)
34	1	42929242	G	A	Pathogenic	SLC2A1	.	.	.	.	.	.	.	.	.	.	1	42929242	42929242	G	A	exonic	SLC2A1	.	nonsynonymous SNV	SLC2A1:NM_006516:exon7:c.G940T:p.G314C	1p34.2	.	.	0.0	D	1.0	D	1.0	D	0.000	D	1	D	4.365	H	-1.26	T	-8.78	D	0.954	8.012	35	0.998	0.974	D	0.880	D	0.783	D	0.707	0	5.38	0.871	0.935	0.940	0.986	16.645	Deleterious
35	1	42929298	C	T	Pathogenic	SLC2A1	.	.	.	.	.	.	.	.	.	.	1	42929298	42929298	C	T	exonic	SLC2A1	.	nonsynonymous SNV	SLC2A1:NM_006516:exon7:c.C884A:p.T295K	1p34.2	.	.	0.001	D	0.999	D	0.99	D	0.000	D	1	D	3.665	H	-1.5	D	-5.83	D	0.947	7.488	34	0.995	0.986	D	0.787	D	0.767	D	0.707	0	5.24	0.917	1.048	0.997	0.989	16.345	Deleterious
36	1	42929613	C	T	Pathogenic	SLC2A1	.	.	.	.	.	.	.	.	.	.	1	42929613	42929613	C	T	exonic	SLC2A1	.	nonsynonymous SNV	SLC2A1:NM_006516:exon6:c.C847A:p.Q283K	1p34.2	.	.	0.001	D	0.998	D	0.957	D	0.000	D	1	D	4.8	H	-1.44	T	-3.87	D	0.896	5.803	27.1	0.996	0.983	D	0.987	D	0.827	D	0.707	0	5.14	0.917	0.974	1.000	1.000	16.110	Deleterious
37	1	42929637	G	A	Pathogenic	SLC2A1	.	.	.	.	.	.	.	.	.	.	1	42929637	42929637	G	A	exonic	SLC2A1	.	nonsynonymous SNV	SLC2A1:NM_006516:exon6:c.G823T:p.A275S	1p34.2	.	.	0.48	T	0.256	B	0.279	B	0.000	D	1	D	1.035	L	-0.9	T	-1.84	N	0.554	5.304	25.8	0.992	0.975	D	-0.664	T	0.302	T	0.707	0	5.14	0.871	0.870	0.994	0.996	16.110	Tolerated
38	1	42929712	C	T	Pathogenic	SLC2A1	.	.	.	.	.	.	.	.	.	.	1	42929712	42929712	C	T	exonic	SLC2A1	.	nonsynonymous SNV	SLC2A1:NM_006516:exon6:c.C748A:p.Q250K	1p34.2	.	.	1.0	T	0.001	B	0.01	B	0.000	D	1.000	D	-0.415	N	-0.74	T	0.77	N	0.167	0.543	7.750	0.851	0.894	D	-0.857	T	0.156	T	0.707	0	5.14	0.917	0.974	1.000	0.943	16.110	Tolerated
39	1	42929736	C	T	Pathogenic	SLC2A1	.	.	.	.	.	.	.	.	.	.	1	42929736	42929736	C	T	exonic	SLC2A1	.	nonsynonymous SNV	SLC2A1:NM_006516:exon6:c.C724A:p.Q242K	1p34.2	.	.	0.091	T	0.129	B	0.063	B	0.000	N	1.000	D	1.74	L	-0.84	T	-1.77	N	0.247	3.914	23.5	0.992	0.942	D	-0.590	T	0.308	T	0.707	0	4.2	0.917	0.974	0.998	1.000	12.527	Tolerated
40	1	42930765	G	A	Pathogenic	SLC2A1	.	.	.	.	.	.	.	.	.	.	1	42930765	42930765	G	A	exonic	SLC2A1	.	nonsynonymous SNV	SLC2A1:NM_006516:exon4:c.G377T:p.R126L	1p34.2	.	rs80359816	0.0	D	1.0	D	0.999	D	0.000	D	1	D	4.805	H	-2.63	D	-6.51	D	0.997	7.972	35	0.999	0.979	D	1.097	D	0.930	D	0.707	0	5.51	0.871	0.935	1.000	1.000	16.915	Deleterious
41	1	42930766	C	T	Pathogenic	SLC2A1	.	.	.	.	.	.	.	.	.	.	1	42930766	42930766	C	T	exonic	SLC2A1	.	nonsynonymous SNV	SLC2A1:NM_006516:exon4:c.C376A:p.R126S	1p34.2	.	.	0.02	D	1.0	D	1.0	D	0.000	D	1	D	4.805	H	-2.63	D	-5.58	D	0.99	7.012	33	0.998	0.963	D	1.097	D	0.930	D	0.707	0	5.51	0.917	1.048	1.000	1.000	16.915	Deleterious
42	1	45331220	G	T	Pathogenic	MUTYH	.	.	.	.	.	.	.	.	.	.	1	45331220	45331220	G	T	exonic	MUTYH	.	nonsynonymous SNV	MUTYH:NM_001048171:exon14:c.G1396A:p.E466K,MUTYH:NM_001048172:exon14:c.G1357A:p.E453K,MUTYH:NM_001048173:exon14:c.G1354A:p.E452K,MUTYH:NM_001048174:exon14:c.G1354A:p.E452K,MUTYH:NM_001128425:exon14:c.G1438A:p.E480K,MUTYH:NM_001293190:exon14:c.G1399A:p.E467K,MUTYH:NM_001293191:exon14:c.G1387A:p.E463K,MUTYH:NM_001293192:exon14:c.G1078A:p.E360K,MUTYH:NM_001293196:exon14:c.G1078A:p.E360K,MUTYH:NM_012222:exon14:c.G1429A:p.E477K,MUTYH:NM_001293195:exon15:c.G1354A:p.E452K	1p34.1	.	.	0.119	T	0.981	D	0.854	P	0.000	D	1	D	2.34	M	-2.82	D	-1.8	N	0.568	4.994	25.1	0.998	0.995	D	0.743	D	0.817	D	0.707	0	5.16	0.871	0.932	0.408	0.514	18.657	Deleterious
43	1	45331529	C	T	Pathogenic	MUTYH	.	.	.	.	.	.	.	.	.	.	1	45331529	45331529	C	T	exonic	MUTYH	.	nonsynonymous SNV	MUTYH:NM_001048171:exon13:c.C1172A:p.P391Q,MUTYH:NM_001048172:exon13:c.C1133A:p.P378Q,MUTYH:NM_001048173:exon13:c.C1130A:p.P377Q,MUTYH:NM_001048174:exon13:c.C1130A:p.P377Q,MUTYH:NM_001128425:exon13:c.C1214A:p.P405Q,MUTYH:NM_001293190:exon13:c.C1175A:p.P392Q,MUTYH:NM_001293191:exon13:c.C1163A:p.P388Q,MUTYH:NM_001293192:exon13:c.C854A:p.P285Q,MUTYH:NM_001293196:exon13:c.C854A:p.P285Q,MUTYH:NM_012222:exon13:c.C1205A:p.P402Q,MUTYH:NM_001293195:exon14:c.C1130A:p.P377Q	1p34.1	.	.	0.002	D	1.0	D	1.0	D	0.000	D	1	D	3.75	H	-5.24	D	-7.33	D	0.937	5.834	27.2	0.993	0.998	D	0.472	D	0.602	D	0.672	0	4.64	0.917	1.048	0.741	0.998	14.350	Deleterious
44	1	45331556	G	A	Pathogenic	MUTYH	.	.	.	.	.	.	.	.	.	.	1	45331556	45331556	G	A	exonic	MUTYH	.	nonsynonymous SNV	MUTYH:NM_001048171:exon13:c.G1145T:p.G382V,MUTYH:NM_001048172:exon13:c.G1106T:p.G369V,MUTYH:NM_001048173:exon13:c.G1103T:p.G368V,MUTYH:NM_001048174:exon13:c.G1103T:p.G368V,MUTYH:NM_001128425:exon13:c.G1187T:p.G396V,MUTYH:NM_001293190:exon13:c.G1148T:p.G383V,MUTYH:NM_001293191:exon13:c.G1136T:p.G379V,MUTYH:NM_001293192:exon13:c.G827T:p.G276V,MUTYH:NM_001293196:exon13:c.G827T:p.G276V,MUTYH:NM_012222:exon13:c.G1178T:p.G393V,MUTYH:NM_001293195:exon14:c.G1103T:p.G368V	1p34.1	.	.	0.0	D	1.0	D	0.999	D	0.000	D	1	D	3.745	H	-3.81	D	-6.07	D	0.954	6.388	29.5	0.998	0.998	D	0.496	D	0.636	D	0.672	0	5.4	0.871	0.935	0.965	0.980	19.186	Deleterious
45	1	45331558	A	G	Pathogenic/Likely pathogenic	MUTYH	.	.	.	.	.	.	.	.	.	.	1	45331558	45331558	A	G	splicing	MUTYH	NM_001048173:exon13:c.1103-2T>C,NM_001048172:exon13:c.1106-2T>C,NM_001048171:exon13:c.1145-2T>C,NM_012222:exon13:c.1178-2T>C,NM_001293190:exon13:c.1148-2T>C,NM_001293196:exon13:c.827-2T>C,NM_001293195:exon14:c.1103-2T>C,NM_001293192:exon13:c.827-2T>C,NM_001293191:exon13:c.1136-2T>C,NM_001048174:exon13:c.1103-2T>C,NM_001128425:exon13:c.1187-2T>C	.	.	1p34.1	.	.	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	3.407	23.0	0.925	0.997	D	.	.	.	.	0.116	0	4.26	0.991	1.061	0.945	0.953	11.686	Deleterious (FATHMM)
46	1	45331835	C	T	Pathogenic	MUTYH	.	.	.	.	.	.	.	.	.	.	1	45331835	45331835	C	T	exonic	MUTYH	.	nonsynonymous SNV	MUTYH:NM_001048171:exon12:c.C970A:p.Q324K,MUTYH:NM_001048172:exon12:c.C931A:p.Q311K,MUTYH:NM_001048173:exon12:c.C928A:p.Q310K,MUTYH:NM_001048174:exon12:c.C928A:p.Q310K,MUTYH:NM_001128425:exon12:c.C1012A:p.Q338K,MUTYH:NM_001293190:exon12:c.C973A:p.Q325K,MUTYH:NM_001293191:exon12:c.C961A:p.Q321K,MUTYH:NM_001293192:exon12:c.C652A:p.Q218K,MUTYH:NM_001293196:exon12:c.C652A:p.Q218K,MUTYH:NM_012222:exon12:c.C1003A:p.Q335K,MUTYH:NM_001293195:exon13:c.C928A:p.Q310K	1p34.1	.	.	0.928	T	0.029	B	0.029	B	0.038	N	1.000	N	2.125	M	3.34	T	-0.48	N	0.178	-0.486	0.238	0.622	0.180	N	-0.958	T	0.043	T	0.732	0	4.73	0.917	1.048	0.105	0.520	3.561	Tolerated
47	1	45332163	A	C	Pathogenic	MUTYH	.	.	.	.	.	.	.	.	.	.	1	45332163	45332163	A	C	intronic	MUTYH	.	.	.	1p34.1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	probably Tolerated (Intron)
48	1	45332215	C	T	Pathogenic	MUTYH	.	.	.	.	.	.	.	.	.	.	1	45332215	45332215	C	T	exonic	MUTYH	.	nonsynonymous SNV	MUTYH:NM_001048171:exon10:c.C842A:p.P281Q,MUTYH:NM_001048172:exon10:c.C803A:p.P268Q,MUTYH:NM_001048173:exon10:c.C800A:p.P267Q,MUTYH:NM_001048174:exon10:c.C800A:p.P267Q,MUTYH:NM_001128425:exon10:c.C884A:p.P295Q,MUTYH:NM_001293190:exon10:c.C845A:p.P282Q,MUTYH:NM_001293191:exon10:c.C833A:p.P278Q,MUTYH:NM_001293192:exon10:c.C524A:p.P175Q,MUTYH:NM_001293196:exon10:c.C524A:p.P175Q,MUTYH:NM_012222:exon10:c.C875A:p.P292Q,MUTYH:NM_001293195:exon11:c.C800A:p.P267Q	1p34.1	.	.	0.001	D	1.0	D	0.995	D	0.000	D	1	D	4.435	H	-4.21	D	-7.41	D	0.871	5.541	26.4	0.993	0.995	D	1.029	D	0.982	D	0.732	0	5.51	0.917	0.953	0.502	0.934	19.419	Deleterious
49	1	45332242	G	A	Pathogenic/Likely pathogenic	MUTYH	.	.	.	.	.	.	.	.	.	.	1	45332242	45332242	G	A	exonic	MUTYH	.	nonsynonymous SNV	MUTYH:NM_001048171:exon10:c.G815T:p.G272V,MUTYH:NM_001048172:exon10:c.G776T:p.G259V,MUTYH:NM_001048173:exon10:c.G773T:p.G258V,MUTYH:NM_001048174:exon10:c.G773T:p.G258V,MUTYH:NM_001128425:exon10:c.G857T:p.G286V,MUTYH:NM_001293190:exon10:c.G818T:p.G273V,MUTYH:NM_001293191:exon10:c.G806T:p.G269V,MUTYH:NM_001293192:exon10:c.G497T:p.G166V,MUTYH:NM_001293196:exon10:c.G497T:p.G166V,MUTYH:NM_012222:exon10:c.G848T:p.G283V,MUTYH:NM_001293195:exon11:c.G773T:p.G258V	1p34.1	.	rs730881833	0.0	D	1.0	D	1.0	D	0.000	D	1	D	4.455	H	-4.31	D	-8.51	D	0.996	6.536	31	0.998	0.991	D	0.988	D	0.988	D	0.732	0	5.51	0.871	0.852	0.981	0.993	19.419	Deleterious
50	1	45332300	C	T	Pathogenic	MUTYH	.	.	.	.	.	.	.	.	.	.	1	45332300	45332300	C	T	exonic	MUTYH	.	nonsynonymous SNV	MUTYH:NM_001048171:exon10:c.C757A:p.Q253K,MUTYH:NM_001048172:exon10:c.C718A:p.Q240K,MUTYH:NM_001048173:exon10:c.C715A:p.Q239K,MUTYH:NM_001048174:exon10:c.C715A:p.Q239K,MUTYH:NM_001128425:exon10:c.C799A:p.Q267K,MUTYH:NM_001293190:exon10:c.C760A:p.Q254K,MUTYH:NM_001293191:exon10:c.C748A:p.Q250K,MUTYH:NM_001293192:exon10:c.C439A:p.Q147K,MUTYH:NM_001293196:exon10:c.C439A:p.Q147K,MUTYH:NM_012222:exon10:c.C790A:p.Q264K,MUTYH:NM_001293195:exon11:c.C715A:p.Q239K	1p34.1	.	.	0.88	T	0.102	B	0.034	B	0.000	D	1	D	0.455	N	-2.97	D	-0.92	N	0.369	0.484	7.305	0.816	0.841	D	-0.127	T	0.541	D	0.732	0	5.64	0.917	0.949	0.988	0.939	12.749	Deleterious
51	1	45332440	C	T	Pathogenic/Likely pathogenic	MUTYH	.	.	.	.	.	.	.	.	.	.	1	45332440	45332440	C	T	exonic	MUTYH	.	synonymous SNV	MUTYH:NM_001048171:exon9:c.C697A:p.R233R,MUTYH:NM_001048172:exon9:c.C658A:p.R220R,MUTYH:NM_001048173:exon9:c.C655A:p.R219R,MUTYH:NM_001048174:exon9:c.C655A:p.R219R,MUTYH:NM_001128425:exon9:c.C739A:p.R247R,MUTYH:NM_001293190:exon9:c.C700A:p.R234R,MUTYH:NM_001293191:exon9:c.C688A:p.R230R,MUTYH:NM_001293192:exon9:c.C379A:p.R127R,MUTYH:NM_001293196:exon9:c.C379A:p.R127R,MUTYH:NM_012222:exon9:c.C730A:p.R244R,MUTYH:NM_001293195:exon10:c.C655A:p.R219R	1p34.1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
52	1	45332445	G	A	Pathogenic	MUTYH	.	.	.	.	.	.	.	.	.	.	1	45332445	45332445	G	A	exonic	MUTYH	.	nonsynonymous SNV	MUTYH:NM_001048171:exon9:c.G692T:p.R231L,MUTYH:NM_001048172:exon9:c.G653T:p.R218L,MUTYH:NM_001048173:exon9:c.G650T:p.R217L,MUTYH:NM_001048174:exon9:c.G650T:p.R217L,MUTYH:NM_001128425:exon9:c.G734T:p.R245L,MUTYH:NM_001293190:exon9:c.G695T:p.R232L,MUTYH:NM_001293191:exon9:c.G683T:p.R228L,MUTYH:NM_001293192:exon9:c.G374T:p.R125L,MUTYH:NM_001293196:exon9:c.G374T:p.R125L,MUTYH:NM_012222:exon9:c.G725T:p.R242L,MUTYH:NM_001293195:exon10:c.G650T:p.R217L	1p34.1	.	.	0.0	D	0.998	D	0.968	D	0.000	D	1	D	4.5	H	-2.55	D	-6.58	D	0.997	7.102	33	0.998	0.997	D	1.090	D	0.962	D	0.719	0	5.6	0.871	0.925	0.991	1.000	19.214	Deleterious
53	1	45332446	C	T	Pathogenic/Likely pathogenic	MUTYH	.	.	.	.	.	.	.	.	.	.	1	45332446	45332446	C	T	exonic	MUTYH	.	nonsynonymous SNV	MUTYH:NM_001048171:exon9:c.C691A:p.R231S,MUTYH:NM_001048172:exon9:c.C652A:p.R218S,MUTYH:NM_001048173:exon9:c.C649A:p.R217S,MUTYH:NM_001048174:exon9:c.C649A:p.R217S,MUTYH:NM_001128425:exon9:c.C733A:p.R245S,MUTYH:NM_001293190:exon9:c.C694A:p.R232S,MUTYH:NM_001293191:exon9:c.C682A:p.R228S,MUTYH:NM_001293192:exon9:c.C373A:p.R125S,MUTYH:NM_001293196:exon9:c.C373A:p.R125S,MUTYH:NM_012222:exon9:c.C724A:p.R242S,MUTYH:NM_001293195:exon10:c.C649A:p.R217S	1p34.1	.	.	0.0	D	1.0	D	0.997	D	0.000	D	1	D	4.5	H	-2.53	D	-5.64	D	0.997	5.697	26.8	0.997	0.978	D	1.082	D	0.958	D	0.719	0	4.69	0.917	1.036	0.993	1.000	14.184	Deleterious
54	1	45332458	C	T	Pathogenic/Likely pathogenic	MUTYH	.	.	.	.	.	.	.	.	.	.	1	45332458	45332458	C	T	exonic	MUTYH	.	synonymous SNV	MUTYH:NM_001048171:exon9:c.C679A:p.R227R,MUTYH:NM_001048172:exon9:c.C640A:p.R214R,MUTYH:NM_001048173:exon9:c.C637A:p.R213R,MUTYH:NM_001048174:exon9:c.C637A:p.R213R,MUTYH:NM_001128425:exon9:c.C721A:p.R241R,MUTYH:NM_001293190:exon9:c.C682A:p.R228R,MUTYH:NM_001293191:exon9:c.C670A:p.R224R,MUTYH:NM_001293192:exon9:c.C361A:p.R121R,MUTYH:NM_001293196:exon9:c.C361A:p.R121R,MUTYH:NM_012222:exon9:c.C712A:p.R238R,MUTYH:NM_001293195:exon10:c.C637A:p.R213R	1p34.1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
55	1	45332794	G	A	Pathogenic	MUTYH	.	.	.	.	.	.	.	.	.	.	1	45332794	45332794	G	A	exonic	MUTYH	.	nonsynonymous SNV	MUTYH:NM_001048171:exon7:c.G503T:p.R168L,MUTYH:NM_001048172:exon7:c.G464T:p.R155L,MUTYH:NM_001048173:exon7:c.G461T:p.R154L,MUTYH:NM_001048174:exon7:c.G461T:p.R154L,MUTYH:NM_001128425:exon7:c.G545T:p.R182L,MUTYH:NM_001293190:exon7:c.G506T:p.R169L,MUTYH:NM_001293191:exon7:c.G494T:p.R165L,MUTYH:NM_001293192:exon7:c.G185T:p.R62L,MUTYH:NM_001293196:exon7:c.G185T:p.R62L,MUTYH:NM_012222:exon7:c.G536T:p.R179L,MUTYH:NM_001293195:exon8:c.G461T:p.R154L	1p34.1	7.7e-05	rs143353451	0.0	D	1.0	D	1.0	D	0.000	D	1	D	4.515	H	-2.63	D	-6.47	D	0.981	7.089	33	0.999	0.998	D	1.100	D	0.924	D	0.707	0	4.99	0.871	0.927	0.994	0.995	18.636	Deleterious
56	1	45332795	C	T	Pathogenic/Likely pathogenic	MUTYH	.	.	.	.	.	.	.	.	.	.	1	45332795	45332795	C	T	exonic	MUTYH	.	nonsynonymous SNV	MUTYH:NM_001048171:exon7:c.C502A:p.R168S,MUTYH:NM_001048172:exon7:c.C463A:p.R155S,MUTYH:NM_001048173:exon7:c.C460A:p.R154S,MUTYH:NM_001048174:exon7:c.C460A:p.R154S,MUTYH:NM_001128425:exon7:c.C544A:p.R182S,MUTYH:NM_001293190:exon7:c.C505A:p.R169S,MUTYH:NM_001293191:exon7:c.C493A:p.R165S,MUTYH:NM_001293192:exon7:c.C184A:p.R62S,MUTYH:NM_001293196:exon7:c.C184A:p.R62S,MUTYH:NM_012222:exon7:c.C535A:p.R179S,MUTYH:NM_001293195:exon8:c.C460A:p.R154S	1p34.1	.	.	0.0	D	1.0	D	1.0	D	0.000	D	1	A	4.515	H	-2.65	D	-5.55	D	0.987	5.361	25.9	0.993	0.902	D	0.613	D	0.650	D	0.707	0	2.93	0.917	1.048	0.996	0.997	13.604	Deleterious
57	1	45332803	A	G	Pathogenic	MUTYH	.	.	.	.	.	.	.	.	.	.	1	45332803	45332803	A	G	exonic	MUTYH	.	nonsynonymous SNV	MUTYH:NM_001048171:exon7:c.A494C:p.Y165S,MUTYH:NM_001048172:exon7:c.A455C:p.Y152S,MUTYH:NM_001048173:exon7:c.A452C:p.Y151S,MUTYH:NM_001048174:exon7:c.A452C:p.Y151S,MUTYH:NM_001128425:exon7:c.A536C:p.Y179S,MUTYH:NM_001293190:exon7:c.A497C:p.Y166S,MUTYH:NM_001293191:exon7:c.A485C:p.Y162S,MUTYH:NM_001293192:exon7:c.A176C:p.Y59S,MUTYH:NM_001293196:exon7:c.A176C:p.Y59S,MUTYH:NM_012222:exon7:c.A527C:p.Y176S,MUTYH:NM_001293195:exon8:c.A452C:p.Y151S	1p34.1	.	.	0.0	D	1.0	D	1.0	D	0.000	D	1	D	4.505	H	-2.16	D	-8.62	D	0.979	5.385	26.0	0.992	0.995	D	1.048	D	0.884	D	0.707	0	5.01	0.991	1.061	1.000	1.000	15.014	Deleterious
58	1	45332955	G	A	Pathogenic	MUTYH	.	.	.	.	.	.	.	.	.	.	1	45332955	45332955	G	A	exonic	MUTYH	.	nonsynonymous SNV	MUTYH:NM_001048171:exon6:c.G425T:p.W142L,MUTYH:NM_001048172:exon6:c.G386T:p.W129L,MUTYH:NM_001048173:exon6:c.G383T:p.W128L,MUTYH:NM_001048174:exon6:c.G383T:p.W128L,MUTYH:NM_001128425:exon6:c.G467T:p.W156L,MUTYH:NM_001293190:exon6:c.G428T:p.W143L,MUTYH:NM_001293191:exon6:c.G416T:p.W139L,MUTYH:NM_001293192:exon6:c.G107T:p.W36L,MUTYH:NM_001293196:exon6:c.G107T:p.W36L,MUTYH:NM_012222:exon6:c.G458T:p.W153L,MUTYH:NM_001293195:exon7:c.G383T:p.W128L	1p34.1	.	.	0.099	T	1.0	D	0.999	D	0.000	D	1	D	1.72	L	-2.02	D	-11.46	D	0.822	6.571	31	0.986	0.996	D	0.536	D	0.714	D	0.707	0	5.02	0.871	0.935	0.993	0.997	18.692	Deleterious
59	1	45333168	T	A	Pathogenic	MUTYH	.	.	.	.	.	.	.	.	.	.	1	45333168	45333168	T	A	exonic	MUTYH	.	synonymous SNV	MUTYH:NM_001048171:exon5:c.T349T:p.W117W,MUTYH:NM_001048172:exon5:c.T310T:p.W104W,MUTYH:NM_001048173:exon5:c.T307T:p.W103W,MUTYH:NM_001048174:exon5:c.T307T:p.W103W,MUTYH:NM_001128425:exon5:c.T391T:p.W131W,MUTYH:NM_001293190:exon5:c.T352T:p.W118W,MUTYH:NM_001293191:exon5:c.T340T:p.W114W,MUTYH:NM_001293192:exon5:c.T31T:p.W11W,MUTYH:NM_001293196:exon5:c.T31T:p.W11W,MUTYH:NM_012222:exon5:c.T382T:p.W128W,MUTYH:NM_001293195:exon6:c.T307T:p.W103W	1p34.1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
60	1	45333171	G	C	Pathogenic/Likely pathogenic	MUTYH	.	.	.	.	.	.	.	.	.	.	1	45333171	45333171	G	C	splicing	MUTYH	NM_001048173:exon5:c.305-1C>G,NM_001048172:exon5:c.308-1C>G,NM_001048171:exon5:c.347-1C>G,NM_012222:exon5:c.380-1C>G,NM_001293190:exon5:c.350-1C>G,NM_001293196:exon5:c.29-1C>G,NM_001293195:exon6:c.305-1C>G,NM_001293192:exon5:c.29-1C>G,NM_001293191:exon5:c.338-1C>G,NM_001048174:exon5:c.305-1C>G,NM_001128425:exon5:c.389-1C>G	.	.	1p34.1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.
61	1	45333436	C	T	Pathogenic/Likely pathogenic	MUTYH	.	.	.	.	.	.	.	.	.	.	1	45333436	45333436	C	T	exonic	MUTYH	.	synonymous SNV	MUTYH:NM_001048171:exon3:c.C283A:p.R95R,MUTYH:NM_001048172:exon3:c.C244A:p.R82R,MUTYH:NM_001048173:exon3:c.C241A:p.R81R,MUTYH:NM_001048174:exon3:c.C241A:p.R81R,MUTYH:NM_001128425:exon3:c.C325A:p.R109R,MUTYH:NM_001293190:exon3:c.C286A:p.R96R,MUTYH:NM_001293191:exon3:c.C274A:p.R92R,MUTYH:NM_012222:exon3:c.C316A:p.R106R,MUTYH:NM_001293195:exon4:c.C241A:p.R81R	1p34.1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
62	1	45333449	C	A	Pathogenic	MUTYH	.	.	.	.	.	.	.	.	.	.	1	45333449	45333449	C	A	exonic	MUTYH	.	synonymous SNV	MUTYH:NM_001048171:exon3:c.C270T:p.Y90Y,MUTYH:NM_001048172:exon3:c.C231T:p.Y77Y,MUTYH:NM_001048173:exon3:c.C228T:p.Y76Y,MUTYH:NM_001048174:exon3:c.C228T:p.Y76Y,MUTYH:NM_001128425:exon3:c.C312T:p.Y104Y,MUTYH:NM_001293190:exon3:c.C273T:p.Y91Y,MUTYH:NM_001293191:exon3:c.C261T:p.Y87Y,MUTYH:NM_012222:exon3:c.C303T:p.Y101Y,MUTYH:NM_001293195:exon4:c.C228T:p.Y76Y	1p34.1	0.0018	rs121908380	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
63	1	45333452	G	A	Pathogenic	MUTYH	.	.	.	.	.	.	.	.	.	.	1	45333452	45333452	G	A	exonic	MUTYH	.	nonsynonymous SNV	MUTYH:NM_001048171:exon3:c.G267T:p.W89C,MUTYH:NM_001048172:exon3:c.G228T:p.W76C,MUTYH:NM_001048173:exon3:c.G225T:p.W75C,MUTYH:NM_001048174:exon3:c.G225T:p.W75C,MUTYH:NM_001128425:exon3:c.G309T:p.W103C,MUTYH:NM_001293190:exon3:c.G270T:p.W90C,MUTYH:NM_001293191:exon3:c.G258T:p.W86C,MUTYH:NM_012222:exon3:c.G300T:p.W100C,MUTYH:NM_001293195:exon4:c.G225T:p.W75C	1p34.1	.	.	0.0	D	1.0	D	1.0	D	0.000	D	1	D	3.77	H	-1.03	T	-11.72	D	0.964	6.039	28.0	0.991	0.997	D	1.067	D	0.936	D	0.732	0	5.86	0.871	0.935	0.981	0.870	20.177	Deleterious
64	1	45333472	C	T	Pathogenic	MUTYH	.	.	.	.	.	.	.	.	.	.	1	45333472	45333472	C	T	exonic	MUTYH	.	synonymous SNV	MUTYH:NM_001048171:exon3:c.C247A:p.R83R,MUTYH:NM_001048172:exon3:c.C208A:p.R70R,MUTYH:NM_001048173:exon3:c.C205A:p.R69R,MUTYH:NM_001048174:exon3:c.C205A:p.R69R,MUTYH:NM_001128425:exon3:c.C289A:p.R97R,MUTYH:NM_001293190:exon3:c.C250A:p.R84R,MUTYH:NM_001293191:exon3:c.C238A:p.R80R,MUTYH:NM_012222:exon3:c.C280A:p.R94R,MUTYH:NM_001293195:exon4:c.C205A:p.R69R	1p34.1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
65	1	45334493	C	T	Pathogenic	MUTYH	.	.	.	.	.	.	.	.	.	.	1	45334493	45334493	C	T	exonic	MUTYH	.	synonymous SNV	MUTYH:NM_001048171:exon2:c.C55A:p.R19R,MUTYH:NM_001048172:exon2:c.C13A:p.R5R,MUTYH:NM_001048173:exon2:c.C13A:p.R5R,MUTYH:NM_001048174:exon2:c.C13A:p.R5R,MUTYH:NM_001128425:exon2:c.C55A:p.R19R,MUTYH:NM_001293190:exon2:c.C55A:p.R19R,MUTYH:NM_001293191:exon2:c.C13A:p.R5R,MUTYH:NM_012222:exon2:c.C55A:p.R19R,MUTYH:NM_001293195:exon3:c.C13A:p.R5R	1p34.1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
66	1	45508329	C	T	Pathogenic	MMACHC	.	.	.	.	.	.	.	.	.	.	1	45508329	45508329	C	T	exonic	MMACHC	.	stopgain	MMACHC:NM_015506:exon3:c.C394T:p.R132X	1p34.1	8.3e-05	rs121918241	.	.	.	.	.	.	0.001	D	1	A	.	.	.	.	.	.	.	12.841	40	0.998	0.759	D	.	.	.	.	0.632	0	5.8	0.871	0.064	0.999	0.997	14.494	Deleterious (FATHMM)
67	1	45508806	G	C	Pathogenic/Likely pathogenic	MMACHC	.	.	.	.	.	.	.	.	.	.	1	45508806	45508806	G	C	exonic	MMACHC	.	nonsynonymous SNV	MMACHC:NM_015506:exon4:c.G440C:p.G147A	1p34.1	0.0003	rs140522266	0.017	D	0.962	D	0.49	P	0.000	D	1	D	2.79	M	-4.33	D	-5.22	D	0.978	5.854	27.3	0.995	0.987	D	1.040	D	0.915	D	0.632	0	5.57	0.917	1.048	1.000	0.998	19.148	Deleterious
68	1	45508847	C	T	Pathogenic	MMACHC	.	.	.	.	.	.	.	.	.	.	1	45508847	45508847	C	T	exonic	MMACHC	.	stopgain	MMACHC:NM_015506:exon4:c.C481T:p.R161X	1p34.1	8.1e-05	rs370596113	.	.	.	.	.	.	0.000	D	1	D	.	.	.	.	.	.	.	11.973	38	0.997	0.914	D	.	.	.	.	0.632	0	3.79	-0.048	0.036	0.990	0.996	14.594	Deleterious (FATHMM)
69	1	45508848	G	A	Pathogenic	MMACHC	.	.	.	.	.	.	.	.	.	.	1	45508848	45508848	G	A	exonic	MMACHC	.	nonsynonymous SNV	MMACHC:NM_015506:exon4:c.G482A:p.R161Q	1p34.1	8.1e-05	rs121918243	0.0	D	1.0	D	1.0	D	0.000	D	1	A	2.83	M	-4.57	D	-3.73	D	0.983	7.500	34	1.000	0.983	D	1.101	D	0.963	D	0.632	0	5.71	0.917	1.048	0.992	0.997	19.448	Deleterious
70	1	46192097	G	A	Pathogenic/Likely pathogenic	TSPAN1|POMGNT1	.	.	.	.	.	.	.	.	.	.	1	46192097	46192097	G	A	splicing	POMGNT1	NM_017739:exon17:c.1539+1C>T,NM_001243766:exon17:c.1539+1C>T,NM_001290130:exon16:c.1110+1C>T,NM_001290129:exon16:c.1473+1C>T	.	.	1p34.1	.	rs138642840	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	6.141	28.4	0.995	0.973	D	.	.	.	.	0.295	0	6.07	0.871	0.855	0.947	0.879	20.644	Deleterious (FATHMM)
71	1	46192397	C	T	Pathogenic	TSPAN1|POMGNT1	.	.	.	.	.	.	.	.	.	.	1	46192397	46192397	C	T	exonic	POMGNT1	.	nonsynonymous SNV	POMGNT1:NM_001290129:exon15:c.C1258A:p.R420S,POMGNT1:NM_001290130:exon15:c.C895A:p.R299S,POMGNT1:NM_001243766:exon16:c.C1324A:p.R442S,POMGNT1:NM_017739:exon16:c.C1324A:p.R442S	1p34.1	.	.	0.0	D	1.0	D	1.0	D	0.000	D	1	D	3.54	H	-2.39	D	-5.56	D	0.995	6.801	32	0.998	0.913	D	0.948	D	0.868	D	0.707	0	5.74	0.917	1.048	1.000	1.000	14.729	Deleterious
72	1	53202427	C	T	Pathogenic	CPT2	.	.	.	.	.	.	.	.	.	.	1	53202427	53202427	C	T	exonic	CPT2	.	nonsynonymous SNV	CPT2:NM_000098:exon3:c.C338T:p.S113L	1p32.3	0.0014	rs74315294	0.001	D	0.999	D	0.981	D	0.000	D	1	A	3.52	H	-2.71	D	-4.89	D	0.935	7.538	34	0.999	0.990	D	0.984	D	0.898	D	0.732	0	5.88	0.871	0.935	0.993	0.891	19.851	Deleterious
73	1	53210560	C	T	Pathogenic/Likely pathogenic	CPT2	.	.	.	.	.	.	.	.	.	.	1	53210560	53210560	C	T	exonic	CPT2	.	stopgain	CPT2:NM_000098:exon4:c.C886T:p.R296X	1p32.3	.	rs727503887	.	.	.	.	.	.	0.000	D	1	A	.	.	.	.	.	.	.	11.323	37	0.998	0.965	D	.	.	.	.	0.732	0	4.49	0.871	0.852	1.000	0.992	13.190	Deleterious (FATHMM)
74	1	63402348	G	A	Pathogenic	ALG6	.	.	.	.	.	.	.	.	.	.	1	63402348	63402348	G	A	intronic	ALG6	.	.	.	1p31.3	0.0008	rs199682486	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	probably Tolerated (Intron)
75	1	75732682	C	T	Pathogenic	ACADM	.	.	.	.	.	.	.	.	.	.	1	75732682	75732682	C	T	exonic	ACADM	.	nonsynonymous SNV	ACADM:NM_001286042:exon2:c.C49T:p.R17C,ACADM:NM_000016:exon3:c.C157T:p.R53C,ACADM:NM_001127328:exon3:c.C169T:p.R57C,ACADM:NM_001286043:exon3:c.C157T:p.R53C	1p31.1	.	rs398123072	0.0	D	1.0	D	0.996	D	0.000	N	1	D	4.37	H	-7.05	D	-6.67	D	0.801	5.747	26.9	0.999	0.934	D	0.903	D	0.996	D	0.732	0	4.86	0.871	0.852	0.822	0.998	14.224	Deleterious
76	1	75732724	T	C	Pathogenic	ACADM	.	.	.	.	.	.	.	.	.	.	1	75732724	75732724	T	C	exonic	ACADM	.	nonsynonymous SNV	ACADM:NM_001286042:exon2:c.T91C:p.Y31H,ACADM:NM_000016:exon3:c.T199C:p.Y67H,ACADM:NM_001127328:exon3:c.T211C:p.Y71H,ACADM:NM_001286043:exon3:c.T199C:p.Y67H	1p31.1	0.0008	rs121434280	0.291	T	0.078	B	0.168	B	0.000	N	1	A	0.6	N	-6.47	D	-2.43	N	0.424	2.685	20.7	0.988	0.988	D	0.880	D	0.914	D	0.732	0	4.45	0.991	0.964	0.084	1.000	10.942	Deleterious
77	1	75732869	T	C	Pathogenic	ACADM	.	.	.	.	.	.	.	.	.	.	1	75732869	75732869	T	C	exonic	ACADM	.	nonsynonymous SNV	ACADM:NM_001286042:exon3:c.T125C:p.I42T,ACADM:NM_000016:exon4:c.T233C:p.I78T,ACADM:NM_001127328:exon4:c.T245C:p.I82T,ACADM:NM_001286043:exon4:c.T233C:p.I78T	1p31.1	.	rs398123074	0.002	D	0.979	D	0.987	D	0.000	D	1	D	2.83	M	-6.55	D	-3.38	D	0.967	6.019	27.9	0.997	0.988	D	0.999	D	0.988	D	0.732	0	5.28	0.991	0.913	0.640	0.942	14.867	Deleterious
78	1	75733603	C	T	Pathogenic	ACADM	.	.	.	.	.	.	.	.	.	.	1	75733603	75733603	C	T	exonic	ACADM	.	nonsynonymous SNV	ACADM:NM_001286042:exon4:c.C254T:p.T85I,ACADM:NM_000016:exon5:c.C362T:p.T121I,ACADM:NM_001127328:exon5:c.C374T:p.T125I,ACADM:NM_001286043:exon6:c.C461T:p.T154I	1p31.1	.	rs121434283	0.018	D	0.849	P	0.899	P	0.000	D	1	A	2.045	M	-6.43	D	-4.32	D	0.981	6.541	31	0.999	0.993	D	1.070	D	0.985	D	0.732	0	5.69	0.871	0.807	0.995	0.997	19.423	Deleterious
79	1	75740094	G	A	Pathogenic/Likely pathogenic	ACADM	.	.	.	.	.	.	.	.	.	.	1	75740094	75740094	G	A	exonic	ACADM	.	nonsynonymous SNV	ACADM:NM_001286044:exon4:c.G16A:p.G6R,ACADM:NM_001286042:exon6:c.G475A:p.G159R,ACADM:NM_000016:exon7:c.G583A:p.G195R,ACADM:NM_001127328:exon7:c.G595A:p.G199R,ACADM:NM_001286043:exon8:c.G682A:p.G228R	1p31.1	0.0002	rs121434278	0.0	D	1.0	D	0.999	D	0.000	D	1	A	3.985	H	-4.15	D	-6.8	D	0.995	7.368	34	0.999	0.989	D	1.018	D	0.987	D	0.732	0	5.46	0.917	1.048	0.997	0.990	18.922	Deleterious
80	1	75745788	G	A	Pathogenic/Likely pathogenic	ACADM	.	.	.	.	.	.	.	.	.	.	1	75745788	75745788	G	A	intronic	ACADM	.	.	.	1p31.1	0.0002	rs370523609	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	probably Tolerated (Intron)
81	1	75749507	A	G	Pathogenic	ACADM	.	.	.	.	.	.	.	.	.	.	1	75749507	75749507	A	G	exonic	ACADM	.	nonsynonymous SNV	ACADM:NM_001286044:exon6:c.A230G:p.D77G,ACADM:NM_001286042:exon8:c.A689G:p.D230G,ACADM:NM_000016:exon9:c.A797G:p.D266G,ACADM:NM_001127328:exon9:c.A809G:p.D270G,ACADM:NM_001286043:exon10:c.A896G:p.D299G	1p31.1	7.7e-05	rs201375579	0.023	D	0.004	B	0.01	B	0.000	D	1.000	D	0.55	N	-5.18	D	-3.14	D	0.745	4.663	24.5	0.997	0.988	D	0.565	D	0.823	D	0.732	0	5.73	1.062	1.199	0.995	0.991	15.690	Deleterious
82	1	75749509	G	A	Pathogenic	ACADM	.	.	.	.	.	.	.	.	.	.	1	75749509	75749509	G	A	exonic	ACADM	.	nonsynonymous SNV	ACADM:NM_001286044:exon6:c.G232A:p.G78R,ACADM:NM_001286042:exon8:c.G691A:p.G231R,ACADM:NM_000016:exon9:c.G799A:p.G267R,ACADM:NM_001127328:exon9:c.G811A:p.G271R,ACADM:NM_001286043:exon10:c.G898A:p.G300R	1p31.1	7.7e-05	rs121434274	0.0	D	1.0	D	1.0	D	0.000	D	1	A	3.3	M	-4.4	D	-7.67	D	0.974	7.390	34	0.999	0.989	D	1.098	D	0.963	D	0.732	0	5.73	0.917	1.048	0.995	0.991	19.508	Deleterious
83	1	75761161	A	G	Pathogenic	ACADM	.	.	.	.	.	.	.	.	.	.	1	75761161	75761161	A	G	exonic	ACADM	.	nonsynonymous SNV	ACADM:NM_001286044:exon8:c.A418G:p.K140E,ACADM:NM_001286042:exon10:c.A877G:p.K293E,ACADM:NM_000016:exon11:c.A985G:p.K329E,ACADM:NM_001127328:exon11:c.A997G:p.K333E,ACADM:NM_001286043:exon12:c.A1084G:p.K362E	1p31.1	0.0054	rs77931234	0.208	T	0.831	P	0.324	B	0.000	D	1	D	-0.21	N	-3.7	D	-0.68	N	0.957	2.975	22.1	0.996	0.980	D	0.161	D	0.518	D	0.732	0	5.21	1.062	1.140	0.999	1.000	14.213	Deleterious
84	1	94001911	C	T	Pathogenic/Likely pathogenic, not provided	ABCA4	.	.	.	.	.	.	.	.	.	.	1	94001911	94001911	C	T	exonic	ABCA4	.	synonymous SNV	ABCA4:NM_000350:exon45:c.C6229A:p.R2077R	1p22.1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
85	1	94005499	G	A	Pathogenic/Likely pathogenic, not provided	ABCA4	.	.	.	.	.	.	.	.	.	.	1	94005499	94005499	G	A	exonic	ABCA4	.	nonsynonymous SNV	ABCA4:NM_000350:exon44:c.G6089T:p.R2030L	1p22.1	.	.	0.002	D	0.995	D	0.987	D	0.000	D	1.000	D	1.755	L	-3.39	D	-5.48	D	0.953	7.613	34	0.999	0.982	D	0.858	D	0.826	D	0.625	0	5.02	0.871	0.935	0.952	0.995	14.99	Deleterious
86	1	94005509	C	T	Pathogenic	ABCA4	.	.	.	.	.	.	.	.	.	.	1	94005509	94005509	C	T	exonic	ABCA4	.	nonsynonymous SNV	ABCA4:NM_000350:exon44:c.C6079A:p.L2027I	1p22.1	.	.	0.003	D	1.0	D	0.999	D	0.000	D	1.000	D	1.975	M	-4.22	D	-1.84	N	0.786	6.395	29.6	0.996	0.988	D	1.070	D	0.938	D	0.549	0	5.93	0.917	1.048	0.998	1.000	20.341	Deleterious
87	1	94008251	G	A	Pathogenic/Likely pathogenic, not provided, risk factor	ABCA4	.	.	.	.	.	.	.	.	.	.	1	94008251	94008251	G	A	exonic	ABCA4	.	nonsynonymous SNV	ABCA4:NM_000350:exon42:c.G5882T:p.G1961V	1p22.1	.	.	0.0	D	1.0	D	0.995	D	0.000	D	1	D	0.565	N	-3.32	D	-7.59	D	0.97	7.006	33	0.997	0.991	D	0.751	D	0.787	D	0.549	0	5.35	0.871	0.935	0.970	0.895	19.614	Deleterious
88	1	94010795	G	A	Pathogenic	ABCA4	.	.	.	.	.	.	.	.	.	.	1	94010795	94010795	G	A	intronic	ABCA4	.	.	.	1p22.1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	probably Tolerated (Intron)
89	1	94019581	G	A	Pathogenic	ABCA4	.	.	.	.	.	.	.	.	.	.	1	94019581	94019581	G	A	splicing	ABCA4	NM_000350:exon36:c.5196+1C>T	.	.	1p22.1	.	.	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	4.870	24.9	0.991	0.983	D	.	.	.	.	0.081	0	5.38	0.871	0.935	0.959	0.455	19.324	Deleterious (FATHMM)
90	1	94021339	G	A	Pathogenic	ABCA4	.	.	.	.	.	.	.	.	.	.	1	94021339	94021339	G	A	exonic	ABCA4	.	nonsynonymous SNV	ABCA4:NM_000350:exon35:c.G4919T:p.R1640L	1p22.1	.	.	0.001	D	1.0	D	0.994	D	0.298	N	1.000	D	3.375	M	-2.33	D	-6.18	D	0.991	7.961	35	0.999	0.901	D	0.307	D	0.863	D	0.497	0	5.42	0.871	0.932	0.973	0.992	19.408	Deleterious
91	1	94024994	G	A	Pathogenic/Likely pathogenic, not provided	ABCA4	.	.	.	.	.	.	.	.	.	.	1	94024994	94024994	G	A	exonic	ABCA4	.	nonsynonymous SNV	ABCA4:NM_000350:exon31:c.G4594T:p.D1532Y	1p22.1	.	.	0.001	D	1.0	D	0.997	D	0.000	D	1	D	2.645	M	-3.94	D	-7.63	D	0.982	7.576	34	0.995	0.981	D	1.051	D	0.926	D	0.554	0	5.09	0.871	0.852	0.998	0.994	18.688	Deleterious
92	1	94029515	G	A	Pathogenic	ABCA4	.	.	.	.	.	.	.	.	.	.	1	94029515	94029515	G	A	exonic	ABCA4	.	nonsynonymous SNV	ABCA4:NM_000350:exon30:c.G4469T:p.C1490F	1p22.1	.	.	0.0	D	0.777	P	0.569	P	0.000	D	1	D	2.725	M	-4.52	D	-9.85	D	0.983	7.201	34	0.992	0.991	D	1.096	D	0.934	D	0.615	0	5.24	0.871	0.935	0.998	0.996	19.086	Deleterious
93	1	94029522	T	C	Pathogenic/Likely pathogenic, not provided	ABCA4	.	.	.	.	.	.	.	.	.	.	1	94029522	94029522	T	C	exonic	ABCA4	.	nonsynonymous SNV	ABCA4:NM_000350:exon30:c.T4462G:p.C1488G	1p22.1	.	.	0.003	D	0.997	D	0.93	D	0.000	D	1	D	2.725	M	-4.49	D	-10.57	D	0.971	5.459	26.1	0.987	0.993	D	1.099	D	0.950	D	0.615	0	5.24	1.062	1.199	0.944	0.941	15.361	Deleterious
94	1	94031110	C	T	Pathogenic, not provided, risk factor	ABCA4	.	.	.	.	.	.	.	.	.	.	1	94031110	94031110	C	T	exonic	ABCA4	.	nonsynonymous SNV	ABCA4:NM_000350:exon28:c.C4139A:p.P1380Q	1p22.1	.	.	0.001	D	0.998	D	0.967	D	0.005	N	1.000	D	2.975	M	-5.22	D	-7.05	D	0.961	5.786	27.1	0.991	0.979	D	1.094	D	0.972	D	0.554	0	5.0	0.917	1.048	0.987	0.036	16.658	Deleterious
95	1	94042767	C	T	Pathogenic/Likely pathogenic, not provided	ABCA4	.	.	.	.	.	.	.	.	.	.	1	94042767	94042767	C	T	exonic	ABCA4	.	nonsynonymous SNV	ABCA4:NM_000350:exon22:c.C3322A:p.R1108S	1p22.1	.	.	0.001	D	0.639	P	0.217	B	0.000	D	1	D	1.155	L	-3.61	D	-4.85	D	0.919	7.209	34	0.999	0.984	D	0.495	D	0.682	D	0.633	0	5.76	0.917	0.953	0.998	0.998	19.972	Deleterious
96	1	94043413	C	T	Pathogenic	ABCA4	.	.	.	.	.	.	.	.	.	.	1	94043413	94043413	C	T	exonic	ABCA4	.	nonsynonymous SNV	ABCA4:NM_000350:exon21:c.C3113A:p.A1038D	1p22.1	.	.	0.006	D	0.183	B	0.184	B	0.000	D	1	D	1.37	L	-3.27	D	-3.68	D	0.804	6.821	32	0.997	0.990	D	0.274	D	0.698	D	0.601	0	5.92	0.917	0.949	1.000	1.000	20.332	Deleterious
97	1	94051698	G	C	Pathogenic	ABCA4	.	.	.	.	.	.	.	.	.	.	1	94051698	94051698	G	C	exonic	ABCA4	.	synonymous SNV	ABCA4:NM_000350:exon17:c.G2588G:p.G863G	1p22.1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
98	1	94055134	G	A	Pathogenic	ABCA4	.	.	.	.	.	.	.	.	.	.	1	94055134	94055134	G	A	exonic	ABCA4	.	nonsynonymous SNV	ABCA4:NM_000350:exon16:c.G2564T:p.W855L	1p22.1	.	.	0.003	D	0.995	D	0.928	D	0.000	D	1.000	D	1.805	L	-3.63	D	-10.77	D	0.887	5.060	25.2	0.989	0.981	D	0.928	D	0.870	D	0.554	0	5.41	0.871	0.935	0.996	0.996	18.792	Deleterious
99	1	94062710	C	T	Pathogenic	ABCA4	.	.	.	.	.	.	.	.	.	.	1	94062710	94062710	C	T	exonic	ABCA4	.	synonymous SNV	ABCA4:NM_000350:exon13:c.C1804A:p.R602R	1p22.1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
100	1	94079339	C	T	Pathogenic	ABCA4	.	.	.	.	.	.	.	.	.	.	1	94079339	94079339	C	T	exonic	ABCA4	.	synonymous SNV	ABCA4:NM_000350:exon9:c.C1222A:p.R408R	1p22.1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
101	1	94098794	G	T	Pathogenic	ABCA4	.	.	.	.	.	.	.	.	.	.	1	94098794	94098794	G	T	exonic	ABCA4	.	synonymous SNV	ABCA4:NM_000350:exon6:c.G768A:p.V256V	1p22.1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
102	1	94098928	C	T	Pathogenic	ABCA4	.	.	.	.	.	.	.	.	.	.	1	94098928	94098928	C	T	exonic	ABCA4	.	nonsynonymous SNV	ABCA4:NM_000350:exon6:c.C634A:p.R212S	1p22.1	.	.	0.284	T	0.994	D	0.875	P	0.000	D	0.999	D	2.395	M	-2.72	D	-2.3	N	0.852	5.492	26.2	0.996	0.961	D	0.604	D	0.800	D	0.497	0	5.83	0.917	1.048	0.972	0.997	17.904	Deleterious
103	1	94111579	G	A	Pathogenic/Likely pathogenic, not provided	ABCA4	.	.	.	.	.	.	.	.	.	.	1	94111579	94111579	G	A	exonic	ABCA4	.	nonsynonymous SNV	ABCA4:NM_000350:exon3:c.G161T:p.C54F	1p22.1	.	rs150774447	0.0	D	1.0	D	1.0	D	0.000	N	1	D	3.195	M	-5.56	D	-9.24	D	0.991	6.669	32	0.990	0.993	D	1.055	D	0.985	D	0.428	0	5.52	0.871	0.935	0.998	0.996	18.217	Deleterious
104	1	94113068	A	G	Pathogenic	ABCA4	.	.	.	.	.	.	.	.	.	.	1	94113068	94113068	A	G	splicing	ABCA4	NM_000350:exon2:c.67-2T>C	.	.	1p22.1	.	.	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	5.240	25.6	0.995	0.993	D	.	.	.	.	0.096	0	5.89	0.991	1.061	0.995	0.999	15.295	Deleterious (FATHMM)
105	1	94121045	A	G	Pathogenic	ABCA4	.	.	.	.	.	.	.	.	.	.	1	94121045	94121045	A	G	exonic	ABCA4	.	nonsynonymous SNV	ABCA4:NM_000350:exon1:c.A1C:p.M1L	1p22.1	.	.	0.0	D	0.962	D	0.867	P	0.000	D	1	D	.	.	0.53	T	-2.18	N	0.957	4.998	25.1	0.967	0.980	D	-0.672	T	0.203	T	0.497	0	3.76	0.991	1.061	0.899	0.281	10.108	Tolerated
106	1	99916398	A	G	Pathogenic/Likely pathogenic	AGL	.	.	.	.	.	.	.	.	.	.	1	99916398	99916398	A	G	intronic	AGL	.	.	.	1p21.2	0.0002	rs369973784	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	probably Tolerated (Intron)
107	1	100214817	G	C	Pathogenic	DBT	.	.	.	.	.	.	.	.	.	.	1	100214817	100214817	G	C	exonic	DBT	.	synonymous SNV	DBT:NM_001918:exon7:c.G939G:p.K313K	1p21.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
108	1	100214855	C	T	Pathogenic	DBT	.	.	.	.	.	.	.	.	.	.	1	100214855	100214855	C	T	exonic	DBT	.	nonsynonymous SNV	DBT:NM_001918:exon7:c.C901A:p.R301S	1p21.2	.	.	0.066	T	0.658	P	0.459	P	0.000	D	1	D	0.8	N	0.99	T	-2.94	D	0.907	4.221	23.9	0.998	0.994	D	-1.031	T	0.078	T	0.707	0	5.44	0.917	0.953	0.995	0.997	19.275	Tolerated
109	1	114716126	G	C	Pathogenic	NRAS	.	.	.	.	.	.	.	.	.	.	1	114716126	114716126	G	C	exonic	NRAS	.	synonymous SNV	NRAS:NM_002524:exon2:c.G35G:p.G12G	1p13.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
110	1	114716126	G	T	Pathogenic	NRAS	.	.	.	.	.	.	.	.	.	.	1	114716126	114716126	G	T	exonic	NRAS	.	nonsynonymous SNV	NRAS:NM_002524:exon2:c.G35A:p.G12D	1p13.2	7.7e-05	rs121913237	0.011	D	0.372	B	0.399	B	0.000	U	1	D	3.325	M	-1.19	T	-5.35	D	0.951	6.806	32	0.998	0.911	D	0.160	D	0.565	D	0.628	0	5.58	0.871	0.935	0.999	1.000	19.377	Deleterious
111	1	155235002	G	A	Pathogenic	GBA	.	.	.	.	.	.	.	.	.	.	1	155235002	155235002	G	A	exonic	GBA	.	nonsynonymous SNV	GBA:NM_001171811:exon10:c.G1343T:p.R448L,GBA:NM_001171812:exon10:c.G1457T:p.R486L,GBA:NM_000157:exon11:c.G1604T:p.R535L,GBA:NM_001005741:exon12:c.G1604T:p.R535L,GBA:NM_001005742:exon12:c.G1604T:p.R535L	1q22	.	.	0.012	D	0.963	D	0.652	P	0.134	U	0.816	N	0.345	N	-3.77	D	-2.65	D	0.744	4.662	24.5	0.986	0.815	D	-0.067	T	0.588	D	0.732	0	1.17	0.033	-0.077	0.966	0.952	5.522	Deleterious
112	1	155235196	C	T	Pathogenic, risk factor	GBA	.	.	.	.	.	.	.	.	.	.	1	155235196	155235196	C	T	exonic	GBA	.	nonsynonymous SNV	GBA:NM_001171811:exon9:c.C1243A:p.R415S,GBA:NM_001171812:exon9:c.C1357A:p.R453S,GBA:NM_000157:exon10:c.C1504A:p.R502S,GBA:NM_001005741:exon11:c.C1504A:p.R502S,GBA:NM_001005742:exon11:c.C1504A:p.R502S	1q22	.	rs80356771	0.14	T	0.065	B	0.062	B	0.003	N	0.999	D	1.025	L	-5.77	D	-3.1	D	0.622	2.763	21.2	0.975	0.542	D	0.701	D	0.836	D	0.706	0	2.11	-0.045	0.803	0.939	0.722	9.221	Deleterious
113	1	155235727	G	C	Pathogenic	GBA	.	.	.	.	.	.	.	.	.	.	1	155235727	155235727	G	C	exonic	GBA	.	synonymous SNV	GBA:NM_001171811:exon8:c.G1081G:p.D361D,GBA:NM_001171812:exon8:c.G1195G:p.D399D,GBA:NM_000157:exon9:c.G1342G:p.D448D,GBA:NM_001005741:exon10:c.G1342G:p.D448D,GBA:NM_001005742:exon10:c.G1342G:p.D448D	1q22	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
114	1	155235843	A	G	Pathogenic, risk factor	GBA	.	.	.	.	.	.	.	.	.	.	1	155235843	155235843	A	G	exonic	GBA	.	nonsynonymous SNV	GBA:NM_001171811:exon8:c.A965C:p.N322T,GBA:NM_001171812:exon8:c.A1079C:p.N360T,GBA:NM_000157:exon9:c.A1226C:p.N409T,GBA:NM_001005741:exon10:c.A1226C:p.N409T,GBA:NM_001005742:exon10:c.A1226C:p.N409T	1q22	.	rs76763715	0.011	D	0.954	P	0.766	P	0.000	D	1	D	1.46	L	-5.8	D	-3.06	D	0.485	5.585	26.5	0.995	0.982	D	1.040	D	0.939	D	0.732	0	3.53	0.991	0.916	0.728	0.990	10.328	Deleterious
115	1	155237453	G	A	Pathogenic	GBA	.	.	.	.	.	.	.	.	.	.	1	155237453	155237453	G	A	exonic	GBA	.	nonsynonymous SNV	GBA:NM_001171811:exon6:c.G626T:p.R209L,GBA:NM_001171812:exon6:c.G740T:p.R247L,GBA:NM_000157:exon7:c.G887T:p.R296L,GBA:NM_001005741:exon8:c.G887T:p.R296L,GBA:NM_001005742:exon8:c.G887T:p.R296L	1q22	.	.	0.014	D	1.0	D	0.995	D	0.000	D	1.000	D	2.745	M	-6.25	D	-6.23	D	0.779	6.904	33	0.998	0.971	D	1.056	D	0.982	D	0.706	0	3.51	0.871	0.818	0.997	0.999	10.668	Deleterious
116	1	155291845	G	A	Pathogenic	PKLR	.	.	.	.	.	.	.	.	.	.	1	155291845	155291845	G	A	exonic	PKLR	.	nonsynonymous SNV	PKLR:NM_000298:exon10:c.G1529T:p.R510L,PKLR:NM_181871:exon10:c.G1436T:p.R479L	1q22	.	.	0.0	D	0.978	D	0.85	P	0.000	D	1	D	2.79	M	-5.55	D	-6.48	D	0.968	7.920	35	0.998	0.987	D	1.090	D	0.969	D	0.624	0	4.85	0.871	0.932	0.985	1.000	15.860	Deleterious
117	1	155291918	C	T	Pathogenic/Likely pathogenic	PKLR	.	.	.	.	.	.	.	.	.	.	1	155291918	155291918	C	T	exonic	PKLR	.	synonymous SNV	PKLR:NM_000298:exon10:c.C1456A:p.R486R,PKLR:NM_181871:exon10:c.C1363A:p.R455R	1q22	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
118	1	155294726	G	T	Pathogenic	PKLR	.	.	.	.	.	.	.	.	.	.	1	155294726	155294726	G	T	exonic	PKLR	.	nonsynonymous SNV	PKLR:NM_000298:exon6:c.G721A:p.E241K,PKLR:NM_181871:exon6:c.G628A:p.E210K	1q22	.	.	0.241	T	0.504	P	0.545	P	0.000	D	1	D	1.845	L	-5.78	D	-3.19	D	0.371	3.541	23.1	0.999	0.972	D	1.048	D	0.926	D	0.652	0	3.56	0.871	0.888	0.196	0.839	10.622	Deleterious
119	1	155904456	G	C	Pathogenic	RIT1	.	.	.	.	.	.	.	.	.	.	1	155904456	155904456	G	C	exonic	RIT1	.	synonymous SNV	RIT1:NM_001256820:exon4:c.G176G:p.G59G,RIT1:NM_001256821:exon5:c.G335G:p.G112G,RIT1:NM_006912:exon5:c.G284G:p.G95G	1q22	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
120	1	155904470	G	A	Pathogenic	RIT1	.	.	.	.	.	.	.	.	.	.	1	155904470	155904470	G	A	exonic	RIT1	.	nonsynonymous SNV	RIT1:NM_001256820:exon4:c.G162T:p.M54I,RIT1:NM_001256821:exon5:c.G321T:p.M107I,RIT1:NM_006912:exon5:c.G270T:p.M90I	1q22	.	.	0.156	T	0.999	D	0.998	D	0.000	D	1	D	-0.005	N	-1.0	T	-3.76	D	0.757	5.223	25.6	0.996	0.981	D	-0.247	T	0.323	T	0.707	0	5.76	0.871	0.892	1.000	1.000	19.572	Tolerated
121	1	155904798	C	G	Pathogenic	RIT1	.	.	.	.	.	.	.	.	.	.	1	155904798	155904798	C	G	exonic	RIT1	.	synonymous SNV	RIT1:NM_001256820:exon3:c.C62C:p.A21A,RIT1:NM_001256821:exon4:c.C221C:p.A74A,RIT1:NM_006912:exon4:c.C170C:p.A57A	1q22	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
122	1	155910658	G	C	Pathogenic	RIT1	.	.	.	.	.	.	.	.	.	.	1	155910658	155910658	G	C	exonic	RIT1	.	synonymous SNV	RIT1:NM_001256821:exon2:c.G155G:p.S52S,RIT1:NM_006912:exon2:c.G104G:p.S35S	1q22	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
123	1	156114921	G	T	Pathogenic/Likely pathogenic	LMNA	.	.	.	.	.	.	.	.	.	.	1	156114921	156114921	G	T	exonic	LMNA	.	nonsynonymous SNV	LMNA:NM_001282626:exon1:c.G3T:p.M1I,LMNA:NM_005572:exon1:c.G3T:p.M1I,LMNA:NM_170707:exon1:c.G3T:p.M1I,LMNA:NM_170708:exon1:c.G3T:p.M1I,LMNA:NM_001282625:exon4:c.G3T:p.M1I	1q22	.	rs794728598	0.0	D	0.838	P	0.429	B	0.000	D	1	D	.	.	-1.91	D	-1.64	N	0.817	5.981	27.8	0.997	0.949	D	0.084	D	0.473	T	0.733	0	4.81	0.917	0.974	1.000	1.000	15.407	Tolerated
124	1	156115162	G	A	Pathogenic	LMNA	.	.	.	.	.	.	.	.	.	.	1	156115162	156115162	G	A	exonic	LMNA	.	nonsynonymous SNV	LMNA:NM_001282626:exon1:c.G244A:p.E82K,LMNA:NM_005572:exon1:c.G244A:p.E82K,LMNA:NM_170707:exon1:c.G244A:p.E82K,LMNA:NM_170708:exon1:c.G244A:p.E82K,LMNA:NM_001282625:exon4:c.G244A:p.E82K	1q22	.	rs59270054	0.0	D	1.0	D	0.999	D	0.000	D	1	D	3.18	M	-1.78	D	-3.65	D	0.966	7.305	34	0.999	0.985	D	0.935	D	0.864	D	0.733	0	4.77	0.917	0.974	1.000	1.000	15.339	Deleterious
125	1	156134457	C	T	Pathogenic	LMNA	.	.	.	.	.	.	.	.	.	.	1	156134457	156134457	C	T	exonic	LMNA	.	nonsynonymous SNV	LMNA:NM_001257374:exon3:c.C232T:p.R78W,LMNA:NM_001282626:exon3:c.C568T:p.R190W,LMNA:NM_005572:exon3:c.C568T:p.R190W,LMNA:NM_170707:exon3:c.C568T:p.R190W,LMNA:NM_170708:exon3:c.C568T:p.R190W,LMNA:NM_001282624:exon4:c.C325T:p.R109W,LMNA:NM_001282625:exon6:c.C568T:p.R190W	1q22	.	rs59026483	0.0	D	1.0	D	1.0	D	0.000	D	1	D	2.71	M	-2.9	D	-6.76	D	0.975	7.709	35	0.999	0.873	D	0.899	D	0.861	D	0.707	0	4.44	-0.058	0.935	0.989	1.000	14.493	Deleterious
126	1	156134474	C	G	Pathogenic	LMNA	.	.	.	.	.	.	.	.	.	.	1	156134474	156134474	C	G	exonic	LMNA	.	nonsynonymous SNV	LMNA:NM_001257374:exon3:c.C249G:p.N83K,LMNA:NM_001282626:exon3:c.C585G:p.N195K,LMNA:NM_005572:exon3:c.C585G:p.N195K,LMNA:NM_170707:exon3:c.C585G:p.N195K,LMNA:NM_170708:exon3:c.C585G:p.N195K,LMNA:NM_001282624:exon4:c.C342G:p.N114K,LMNA:NM_001282625:exon6:c.C585G:p.N195K	1q22	.	rs28933091	0.001	D	1.0	D	1.0	D	0.000	D	1	D	2.015	M	-1.46	T	-5.37	D	0.419	6.382	29.5	0.999	0.936	D	0.688	D	0.774	D	0.707	0	5.44	0.871	0.935	1.000	1.000	16.758	Deleterious
127	1	156134496	G	A	Pathogenic	LMNA	.	.	.	.	.	.	.	.	.	.	1	156134496	156134496	G	A	exonic	LMNA	.	nonsynonymous SNV	LMNA:NM_001257374:exon3:c.G271A:p.E91K,LMNA:NM_001282626:exon3:c.G607A:p.E203K,LMNA:NM_005572:exon3:c.G607A:p.E203K,LMNA:NM_170707:exon3:c.G607A:p.E203K,LMNA:NM_170708:exon3:c.G607A:p.E203K,LMNA:NM_001282624:exon4:c.G364A:p.E122K,LMNA:NM_001282625:exon6:c.G607A:p.E203K	1q22	.	rs61195471	0.057	T	0.994	D	0.98	D	0.000	D	1	D	2.805	M	-3.15	D	-2.68	D	0.992	6.769	32	0.999	0.978	D	0.933	D	0.887	D	0.707	0	5.44	0.917	1.048	1.000	1.000	16.758	Deleterious
128	1	156134838	C	T	Pathogenic	LMNA	.	.	.	.	.	.	.	.	.	.	1	156134838	156134838	C	T	exonic	LMNA	.	stopgain	LMNA:NM_001257374:exon4:c.C337T:p.R113X,LMNA:NM_001282626:exon4:c.C673T:p.R225X,LMNA:NM_005572:exon4:c.C673T:p.R225X,LMNA:NM_170707:exon4:c.C673T:p.R225X,LMNA:NM_170708:exon4:c.C673T:p.R225X,LMNA:NM_001282624:exon5:c.C430T:p.R144X,LMNA:NM_001282625:exon7:c.C673T:p.R225X	1q22	.	rs60682848	.	.	.	.	.	.	0.000	D	1	A	.	.	.	.	.	.	.	12.138	38	0.997	0.969	D	.	.	.	.	0.707	0	5.27	0.871	0.852	0.938	0.549	16.360	Deleterious (FATHMM)
129	1	156134910	C	T	Pathogenic	LMNA	.	.	.	.	.	.	.	.	.	.	1	156134910	156134910	C	T	exonic	LMNA	.	nonsynonymous SNV	LMNA:NM_001257374:exon4:c.C409T:p.R137W,LMNA:NM_001282626:exon4:c.C745T:p.R249W,LMNA:NM_005572:exon4:c.C745T:p.R249W,LMNA:NM_170707:exon4:c.C745T:p.R249W,LMNA:NM_170708:exon4:c.C745T:p.R249W,LMNA:NM_001282624:exon5:c.C502T:p.R168W,LMNA:NM_001282625:exon7:c.C745T:p.R249W	1q22	.	rs121912496	0.0	D	1.0	D	1.0	D	0.000	D	1	A	3.395	M	-3.23	D	-7.38	D	0.962	7.270	34	0.999	0.847	D	1.014	D	0.894	D	0.707	0	3.46	0.871	0.065	0.998	0.997	12.156	Deleterious
130	1	156134911	G	A	Pathogenic	LMNA	.	.	.	.	.	.	.	.	.	.	1	156134911	156134911	G	A	exonic	LMNA	.	nonsynonymous SNV	LMNA:NM_001257374:exon4:c.G410A:p.R137Q,LMNA:NM_001282626:exon4:c.G746A:p.R249Q,LMNA:NM_005572:exon4:c.G746A:p.R249Q,LMNA:NM_170707:exon4:c.G746A:p.R249Q,LMNA:NM_170708:exon4:c.G746A:p.R249Q,LMNA:NM_001282624:exon5:c.G503A:p.R168Q,LMNA:NM_001282625:exon7:c.G746A:p.R249Q	1q22	.	rs59332535	0.002	D	1.0	D	0.999	D	0.000	D	1	D	2.73	M	-3.09	D	-3.66	D	0.93	7.168	34	1.000	0.967	D	0.889	D	0.847	D	0.707	0	4.33	0.917	0.953	0.999	0.999	13.413	Deleterious
131	1	156134964	T	C	Pathogenic	LMNA	.	.	.	.	.	.	.	.	.	.	1	156134964	156134964	T	C	exonic	LMNA	.	nonsynonymous SNV	LMNA:NM_001257374:exon4:c.T463C:p.Y155H,LMNA:NM_001282626:exon4:c.T799C:p.Y267H,LMNA:NM_005572:exon4:c.T799C:p.Y267H,LMNA:NM_170707:exon4:c.T799C:p.Y267H,LMNA:NM_170708:exon4:c.T799C:p.Y267H,LMNA:NM_001282624:exon5:c.T556C:p.Y186H,LMNA:NM_001282625:exon7:c.T799C:p.Y267H	1q22	.	rs267607593	0.0	D	1.0	D	0.998	D	0.000	D	1	D	2.945	M	-3.36	D	-4.23	D	0.985	5.845	27.3	0.998	0.957	D	1.004	D	0.890	D	0.707	0	5.58	0.991	1.061	0.995	0.757	13.696	Deleterious
132	1	156135925	C	T	Pathogenic	LMNA	.	.	.	.	.	.	.	.	.	.	1	156135925	156135925	C	T	exonic	LMNA	.	stopgain	LMNA:NM_001257374:exon6:c.C625T:p.R209X,LMNA:NM_001282626:exon6:c.C961T:p.R321X,LMNA:NM_005572:exon6:c.C961T:p.R321X,LMNA:NM_170707:exon6:c.C961T:p.R321X,LMNA:NM_170708:exon6:c.C961T:p.R321X,LMNA:NM_001282624:exon7:c.C718T:p.R240X,LMNA:NM_001282625:exon9:c.C961T:p.R321X	1q22	.	rs267607554	.	.	.	.	.	.	0.000	D	1	A	.	.	.	.	.	.	.	11.561	37	0.998	0.944	D	.	.	.	.	0.707	0	2.63	0.871	0.935	0.991	0.998	13.294	Deleterious (FATHMM)
133	1	156136021	C	T	Pathogenic/Likely pathogenic	LMNA	.	.	.	.	.	.	.	.	.	.	1	156136021	156136021	C	T	exonic	LMNA	.	stopgain	LMNA:NM_001257374:exon6:c.C721T:p.Q241X,LMNA:NM_001282626:exon6:c.C1057T:p.Q353X,LMNA:NM_005572:exon6:c.C1057T:p.Q353X,LMNA:NM_170707:exon6:c.C1057T:p.Q353X,LMNA:NM_170708:exon6:c.C1057T:p.Q353X,LMNA:NM_001282624:exon7:c.C814T:p.Q272X,LMNA:NM_001282625:exon9:c.C1057T:p.Q353X	1q22	.	rs267607623	.	.	.	.	.	.	0.000	D	1	A	.	.	.	.	.	.	.	12.983	40	0.998	0.971	D	.	.	.	.	0.707	0	5.74	0.871	0.935	1.000	1.000	17.401	Deleterious (FATHMM)
134	1	156136093	C	T	Pathogenic/Likely pathogenic	LMNA	.	.	.	.	.	.	.	.	.	.	1	156136093	156136093	C	T	exonic	LMNA	.	nonsynonymous SNV	LMNA:NM_001257374:exon6:c.C793T:p.R265C,LMNA:NM_001282626:exon6:c.C1129T:p.R377C,LMNA:NM_005572:exon6:c.C1129T:p.R377C,LMNA:NM_170707:exon6:c.C1129T:p.R377C,LMNA:NM_170708:exon6:c.C1129T:p.R377C,LMNA:NM_001282624:exon7:c.C886T:p.R296C,LMNA:NM_001282625:exon9:c.C1129T:p.R377C	1q22	.	rs397517889	0.001	D	1.0	D	1.0	D	0.000	D	1	D	3.265	M	-3.53	D	-7.0	D	0.974	7.562	34	0.999	0.909	D	1.058	D	0.925	D	0.707	0	5.3	0.871	0.935	0.997	0.998	16.787	Deleterious
135	1	156136110	C	T	Pathogenic/Likely pathogenic, not provided	LMNA	.	.	.	.	.	.	.	.	.	.	1	156136110	156136110	C	T	exonic	LMNA	.	synonymous SNV	LMNA:NM_001257374:exon6:c.C810T:p.G270G,LMNA:NM_001282626:exon6:c.C1146T:p.G382G,LMNA:NM_005572:exon6:c.C1146T:p.G382G,LMNA:NM_170707:exon6:c.C1146T:p.G382G,LMNA:NM_170708:exon6:c.C1146T:p.G382G,LMNA:NM_001282624:exon7:c.C903T:p.G301G,LMNA:NM_001282625:exon9:c.C1146T:p.G382G	1q22	.	rs57508089	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
136	1	156136350	C	T	Pathogenic/Likely pathogenic, not provided	LMNA	.	.	.	.	.	.	.	.	.	.	1	156136350	156136350	C	T	exonic	LMNA	.	stopgain	LMNA:NM_001257374:exon7:c.C958T:p.Q320X,LMNA:NM_001282626:exon7:c.C1294T:p.Q432X,LMNA:NM_005572:exon7:c.C1294T:p.Q432X,LMNA:NM_170707:exon7:c.C1294T:p.Q432X,LMNA:NM_170708:exon7:c.C1294T:p.Q432X,LMNA:NM_001282624:exon8:c.C1051T:p.Q351X,LMNA:NM_001282625:exon10:c.C1294T:p.Q432X	1q22	.	rs267607618	.	.	.	.	.	.	0.000	D	1	A	.	.	.	.	.	.	.	13.047	41	0.998	0.975	D	.	.	.	.	0.719	0	5.74	0.871	0.852	0.994	0.868	17.423	Deleterious (FATHMM)
137	1	156136413	C	T	Pathogenic/Likely pathogenic, not provided	LMNA	.	.	.	.	.	.	.	.	.	.	1	156136413	156136413	C	T	exonic	LMNA	.	nonsynonymous SNV	LMNA:NM_001257374:exon7:c.C1021T:p.R341W,LMNA:NM_001282626:exon7:c.C1357T:p.R453W,LMNA:NM_005572:exon7:c.C1357T:p.R453W,LMNA:NM_170707:exon7:c.C1357T:p.R453W,LMNA:NM_170708:exon7:c.C1357T:p.R453W,LMNA:NM_001282624:exon8:c.C1114T:p.R372W,LMNA:NM_001282625:exon10:c.C1357T:p.R453W	1q22	.	rs58932704	0.0	D	1.0	D	0.996	D	0.000	D	1	A	2.79	M	-4.91	D	-5.82	D	0.971	8.077	35	0.999	0.934	D	1.108	D	0.966	D	0.707	0	5.74	0.871	0.852	0.999	0.996	17.423	Deleterious
138	1	156137207	C	A	Pathogenic/Likely pathogenic, not provided	LMNA	.	.	.	.	.	.	.	.	.	.	1	156137207	156137207	C	A	exonic	LMNA	.	nonsynonymous SNV	LMNA:NM_001257374:exon9:c.C1247A:p.T416K,LMNA:NM_001282626:exon9:c.C1583A:p.T528K,LMNA:NM_005572:exon9:c.C1583A:p.T528K,LMNA:NM_170707:exon9:c.C1583A:p.T528K,LMNA:NM_170708:exon9:c.C1583A:p.T528K,LMNA:NM_001282624:exon10:c.C1340A:p.T447K,LMNA:NM_001282625:exon12:c.C1583A:p.T528K	1q22	.	rs57629361	0.003	D	1.0	D	0.999	D	0.000	D	1	D	3.495	M	-5.04	D	-3.9	D	0.978	7.115	34	0.995	0.965	D	1.081	D	0.974	D	0.672	0	4.68	0.871	0.935	0.995	0.980	11.499	Deleterious
139	1	156137653	G	A	Pathogenic/Likely pathogenic	LMNA	.	.	.	.	.	.	.	.	.	.	1	156137653	156137653	G	A	splicing	LMNA	NM_001282625:exon13:c.1609-1G>A,NM_170707:exon10:c.1609-1G>A,NM_005572:exon10:c.1609-1G>A,NM_001282626:exon10:c.1609-1G>A,NM_001282624:exon11:c.1366-1G>A,NM_001257374:exon10:c.1273-1G>A	.	.	1q22	.	rs111569862	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	4.498	24.3	0.995	0.978	D	.	.	.	.	0.257	0	5.6	0.917	1.048	0.820	0.918	17.100	Deleterious (FATHMM)
140	1	156137666	C	T	Pathogenic	LMNA	.	.	.	.	.	.	.	.	.	.	1	156137666	156137666	C	T	exonic	LMNA	.	nonsynonymous SNV	LMNA:NM_001257374:exon10:c.C1285T:p.R429C,LMNA:NM_001282626:exon10:c.C1621T:p.R541C,LMNA:NM_005572:exon10:c.C1621T:p.R541C,LMNA:NM_170707:exon10:c.C1621T:p.R541C,LMNA:NM_001282624:exon11:c.C1378T:p.R460C,LMNA:NM_001282625:exon13:c.C1621T:p.R541C	1q22	.	rs56984562	0.0	D	1.0	D	0.999	D	0.000	D	1	D	2.975	M	-4.86	D	-6.16	D	0.972	7.868	35	0.999	0.885	D	1.083	D	0.961	D	0.706	0	4.63	0.871	0.935	1.000	1.000	10.872	Deleterious
141	1	156138613	C	T	Pathogenic	LMNA	.	.	.	.	.	.	.	.	.	.	1	156138613	156138613	C	T	exonic	LMNA	.	synonymous SNV	LMNA:NM_170708:exon10:c.C1734T:p.G578G,LMNA:NM_001257374:exon11:c.C1488T:p.G496G,LMNA:NM_170707:exon11:c.C1824T:p.G608G	1q22	.	rs58596362	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
142	1	161306426	G	C	Pathogenic/Likely pathogenic	MPZ	.	.	.	.	.	.	.	.	.	.	1	161306426	161306426	G	C	exonic	MPZ	.	synonymous SNV	MPZ:NM_000530:exon4:c.G487G:p.G163G	1q23.3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
143	1	161306722	A	C	Pathogenic	MPZ	.	.	.	.	.	.	.	.	.	.	1	161306722	161306722	A	C	exonic	MPZ	.	nonsynonymous SNV	MPZ:NM_000530:exon3:c.A434G:p.Y145C	1q23.3	.	.	0.038	D	0.972	D	0.717	P	0.001	N	1	D	0.895	L	-0.18	T	-2.37	N	0.754	4.296	24.0	0.998	0.815	D	-0.845	T	0.151	T	0.658	0	4.93	0.991	1.042	0.997	0.998	12.578	Tolerated
144	1	161306863	G	A	Pathogenic	MPZ	.	.	.	.	.	.	.	.	.	.	1	161306863	161306863	G	A	exonic	MPZ	.	nonsynonymous SNV	MPZ:NM_000530:exon3:c.G293T:p.R98L	1q23.3	.	.	0.0	D	1.0	D	0.999	D	0.000	D	1	D	3.23	M	-0.66	T	-6.43	D	0.988	7.460	34	0.999	0.944	D	0.294	D	0.558	D	0.560	0	4.7	0.871	0.935	0.998	0.999	15.179	Deleterious
145	1	161306864	C	T	Pathogenic	MPZ	.	.	.	.	.	.	.	.	.	.	1	161306864	161306864	C	T	exonic	MPZ	.	nonsynonymous SNV	MPZ:NM_000530:exon3:c.C292A:p.R98S	1q23.3	.	.	0.0	D	1.0	D	1.0	D	0.000	D	1	D	3.23	M	-0.54	T	-5.44	D	0.996	6.347	29.4	0.998	0.725	D	0.170	D	0.523	D	0.560	0	3.71	-0.045	1.048	0.997	1.000	11.813	Deleterious
146	1	161307259	C	T	Pathogenic	MPZ	.	.	.	.	.	.	.	.	.	.	1	161307259	161307259	C	T	exonic	MPZ	.	stopgain	MPZ:NM_000530:exon2:c.C233A:p.S78X	1q23.3	.	.	.	.	.	.	.	.	0.000	D	1	A	.	.	.	.	.	.	.	12.995	40	0.995	0.914	D	.	.	.	.	0.653	0	5.36	0.917	1.048	0.954	0.998	16.57	Deleterious (FATHMM)
147	1	161307376	A	C	Pathogenic	MPZ	.	.	.	.	.	.	.	.	.	.	1	161307376	161307376	A	C	exonic	MPZ	.	nonsynonymous SNV	MPZ:NM_000530:exon2:c.A116G:p.H39R	1q23.3	.	rs371856018	0.154	T	0.636	P	0.299	B	0.000	D	1	D	0.635	N	-0.06	T	-1.96	N	0.414	1.688	14.34	0.978	0.776	D	-1.000	T	0.086	T	0.653	0	5.29	0.991	1.061	0.995	0.999	13.178	Tolerated
170	1	215674781	C	A	Pathogenic/Likely pathogenic	USH2A	.	.	.	.	.	.	.	.	.	.	1	215674781	215674781	C	A	exonic	USH2A	.	nonsynonymous SNV	USH2A:NM_206933:exon63:c.C13130T:p.S4377L	1q41	.	.	0.009	D	0.028	B	0.027	B	0.058	U	0.953	N	1.655	L	0.3	T	-2.29	N	0.127	3.212	22.7	0.998	0.960	D	-0.966	T	0.149	T	0.487	0	3.12	0.917	0.998	0.541	0.510	9.875	Tolerated
171	1	215680378	A	G	Pathogenic	USH2A	.	.	.	.	.	.	.	.	.	.	1	215680378	215680378	A	G	splicing	USH2A	NM_206933:exon62:c.12067-2T>C	.	.	1q41	.	.	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	4.368	24.1	0.992	0.994	D	.	.	.	.	0.061	0	5.26	0.991	1.061	0.949	0.956	15.186	Deleterious (FATHMM)
172	1	215728232	G	A	Pathogenic	USH2A	.	.	.	.	.	.	.	.	.	.	1	215728232	215728232	G	A	exonic	USH2A	.	nonsynonymous SNV	USH2A:NM_206933:exon61:c.G11864T:p.W3955L	1q41	.	.	0.012	D	1.0	D	0.997	D	0.001	D	1	D	3.02	M	0.67	T	-8.8	D	0.669	6.597	31	0.985	0.991	D	-0.483	T	0.344	T	0.487	0	5.53	0.871	0.892	0.321	0.246	19.456	Tolerated
173	1	215790168	G	A	Pathogenic	USH2A	.	.	.	.	.	.	.	.	.	.	1	215790168	215790168	G	A	exonic	USH2A	.	nonsynonymous SNV	USH2A:NM_206933:exon51:c.G10073T:p.C3358F	1q41	.	.	0.0	D	1.0	D	0.998	D	0.000	D	1	D	2.535	M	0.97	T	-7.89	D	0.891	6.867	33	0.989	0.988	D	-0.439	T	0.309	T	0.487	0	5.76	0.871	0.935	1.000	1.000	19.976	Tolerated
174	1	215877882	A	G	Pathogenic	USH2A	.	.	.	.	.	.	.	.	.	.	1	215877882	215877882	A	G	splicing	USH2A	NM_206933:exon43:c.8559-2T>C	.	.	1q41	.	.	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	5.101	25.3	0.995	0.981	D	.	.	.	.	0.054	0	5.9	0.991	1.061	1.000	1.000	16.316	Deleterious (FATHMM)
175	1	216073096	G	A	Pathogenic	USH2A|LOC102723833	.	.	.	.	.	.	.	.	.	.	1	216073096	216073096	G	A	splicing	USH2A	NM_206933:exon28:c.5776+1C>T	.	.	1q41	.	.	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	6.089	28.2	0.995	0.991	D	.	.	.	.	0.061	0	6.03	0.871	0.935	0.995	0.998	20.567	Deleterious (FATHMM)
176	1	216247185	C	T	Pathogenic	USH2A	.	.	.	.	.	.	.	.	.	.	1	216247185	216247185	C	T	exonic	USH2A	.	synonymous SNV	USH2A:NM_007123:exon13:c.C2209A:p.R737R,USH2A:NM_206933:exon13:c.C2209A:p.R737R	1q41	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
177	1	216289412	A	G	Pathogenic	USH2A	.	.	.	.	.	.	.	.	.	.	1	216289412	216289412	A	G	splicing	USH2A	NM_206933:exon11:c.1841-2T>C,NM_007123:exon11:c.1841-2T>C	.	.	1q41	.	.	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	4.917	25.0	0.995	0.982	D	.	.	.	.	0.061	0	5.43	0.991	1.061	0.693	0.994	15.785	Deleterious (FATHMM)
178	1	216324240	G	T	Pathogenic	USH2A	.	.	.	.	.	.	.	.	.	.	1	216324240	216324240	G	T	exonic	USH2A	.	nonsynonymous SNV	USH2A:NM_007123:exon7:c.G1256A:p.C419Y,USH2A:NM_206933:exon7:c.G1256A:p.C419Y	1q41	.	.	0.0	D	1.0	D	1.0	D	0.005	N	1	D	3.28	M	-0.03	T	-7.5	D	0.973	6.694	32	0.998	0.989	D	0.296	D	0.554	D	0.487	0	5.42	0.871	0.935	0.995	0.989	19.195	Deleterious
179	1	216325499	C	A	Pathogenic	USH2A	.	.	.	.	.	.	.	.	.	.	1	216325499	216325499	C	A	exonic	USH2A	.	nonsynonymous SNV	USH2A:NM_007123:exon6:c.C949T:p.R317W,USH2A:NM_206933:exon6:c.C949T:p.R317W	1q41	.	.	0.003	D	1.0	D	0.989	D	0.030	N	0.997	D	2.39	M	2.41	T	-4.19	D	0.449	5.826	27.2	0.999	0.830	D	-0.888	T	0.133	T	0.487	0	1.9	0.917	1.048	0.996	0.549	13.102	Tolerated
180	1	218436110	C	T	Pathogenic/Likely pathogenic	TGFB2	.	.	.	.	.	.	.	.	.	.	1	218436110	218436110	C	T	exonic	TGFB2	.	nonsynonymous SNV	TGFB2:NM_003238:exon5:c.C895T:p.R299W,TGFB2:NM_001135599:exon6:c.C979T:p.R327W	1q41	.	rs863223792	0.001	D	1.0	D	1.0	D	0.000	D	1	D	1.995	M	-1.15	T	-5.71	D	0.925	8.104	35	0.999	0.963	D	0.193	D	0.595	D	0.732	0	6.17	0.871	0.935	0.999	1.000	15.581	Deleterious
181	1	218436119	C	T	Pathogenic/Likely pathogenic	TGFB2	.	.	.	.	.	.	.	.	.	.	1	218436119	218436119	C	T	exonic	TGFB2	.	nonsynonymous SNV	TGFB2:NM_003238:exon5:c.C904T:p.R302C,TGFB2:NM_001135599:exon6:c.C988T:p.R330C	1q41	.	.	0.001	D	1.0	D	1.0	D	0.000	D	1	D	1.995	M	-1.22	T	-5.56	D	0.931	7.710	35	0.999	0.924	D	0.193	D	0.595	D	0.732	0	6.17	0.871	0.935	0.998	1.000	15.581	Deleterious
182	1	236895470	C	T	Pathogenic/Likely pathogenic	MTR	.	.	.	.	.	.	.	.	.	.	1	236895470	236895470	C	T	exonic	MTR	.	nonsynonymous SNV	MTR:NM_001291939:exon30:c.C3365T:p.P1122L,MTR:NM_001291940:exon30:c.C2297T:p.P766L,MTR:NM_000254:exon31:c.C3518T:p.P1173L	1q43	0.0003	rs121913578	0.0	D	1.0	D	1.0	D	0.000	D	1	A	3.355	M	-1.31	T	-9.65	D	0.947	7.728	35	0.999	0.991	D	0.711	D	0.763	D	0.732	0	5.57	0.871	0.892	0.993	0.920	19.554	Deleterious
183	1	237377365	G	A	Pathogenic/Likely pathogenic	RYR2	.	.	.	.	.	.	.	.	.	.	1	237377365	237377365	G	A	exonic	RYR2	.	nonsynonymous SNV	RYR2:NM_001035:exon8:c.G506A:p.R169Q	1q43	.	rs397516539	0.0	D	0.999	D	0.833	P	0.000	D	1.000	D	2.885	M	-5.21	D	-3.01	D	0.939	6.024	27.9	1.000	0.981	D	1.101	D	0.967	D	0.554	0	5.17	0.917	1.048	0.991	0.997	17.812	Deleterious
184	1	237377386	G	A	Pathogenic	RYR2	.	.	.	.	.	.	.	.	.	.	1	237377386	237377386	G	A	exonic	RYR2	.	nonsynonymous SNV	RYR2:NM_001035:exon8:c.G527A:p.R176Q	1q43	.	rs794728708	0.0	D	0.999	D	0.874	P	0.000	D	0.999	D	2.81	M	-4.92	D	-3.01	D	0.82	5.288	25.7	1.000	0.979	D	1.103	D	0.962	D	0.554	0	5.17	0.917	1.048	0.992	0.306	17.812	Deleterious
185	1	237445488	C	T	Pathogenic	RYR2	.	.	.	.	.	.	.	.	.	.	1	237445488	237445488	C	T	exonic	RYR2	.	nonsynonymous SNV	RYR2:NM_001035:exon14:c.C1258T:p.R420W	1q43	.	rs190140598	0.001	D	1.0	D	0.895	P	0.000	D	1.000	D	2.18	M	-4.3	D	-4.15	D	0.949	7.169	34	0.999	0.941	D	1.028	D	0.927	D	0.487	0	5.84	0.871	0.892	0.975	0.990	13.356	Deleterious
186	1	237638480	G	A	Pathogenic	RYR2	.	.	.	.	.	.	.	.	.	.	1	237638480	237638480	G	A	exonic	RYR2	.	nonsynonymous SNV	RYR2:NM_001035:exon45:c.G6916A:p.V2306I	1q43	.	rs794728746	0.061	T	1.0	D	0.998	D	0.000	D	1.000	D	2.075	M	-3.94	D	-0.91	N	0.846	6.735	32	0.998	0.995	D	1.033	D	0.916	D	0.554	0	5.31	0.917	0.940	0.998	0.998	19.348	Deleterious
187	1	237640983	G	A	Pathogenic/Likely pathogenic	RYR2	.	.	.	.	.	.	.	.	.	.	1	237640983	237640983	G	A	exonic	RYR2	.	nonsynonymous SNV	RYR2:NM_001035:exon47:c.G7202A:p.R2401H	1q43	.	rs794728756	0.001	D	1.0	D	0.998	D	0.000	D	1.000	D	2.73	M	-5.76	D	-4.56	D	0.926	7.701	35	0.999	0.989	D	1.066	D	0.980	D	0.554	0	4.66	0.917	0.998	0.993	0.785	15.949	Deleterious
188	1	237808913	G	A	Pathogenic/Likely pathogenic	RYR2	.	.	.	.	.	.	.	.	.	.	1	237808913	237808913	G	A	exonic	RYR2	.	nonsynonymous SNV	RYR2:NM_001035:exon100:c.G14311A:p.V4771I	1q43	.	rs794728804	0.129	T	0.999	D	0.984	D	0.000	U	1.000	D	1.9	L	-4.92	D	-0.87	N	0.826	5.432	26.1	0.998	0.991	D	1.084	D	0.953	D	0.554	0	4.88	0.917	0.953	0.994	0.714	18.388	Deleterious
189	1	241500572	T	C	Pathogenic/Likely pathogenic	FH	.	.	.	.	.	.	.	.	.	.	1	241500572	241500572	T	C	exonic	FH	.	nonsynonymous SNV	FH:NM_000143:exon9:c.T1255G:p.S419A	1q43	.	.	0.0	D	0.997	D	0.997	D	0.000	D	1	D	3.445	M	-4.11	D	-2.97	D	0.721	6.326	29.3	0.997	0.942	D	1.098	D	0.951	D	0.744	0	5.71	1.062	1.199	0.998	1.000	13.933	Deleterious
190	1	241504057	A	G	Pathogenic/Likely pathogenic	FH	.	.	.	.	.	.	.	.	.	.	1	241504057	241504057	A	G	exonic	FH	.	nonsynonymous SNV	FH:NM_000143:exon7:c.A1093C:p.S365R	1q43	.	.	0.0	D	1.0	D	1.0	D	0.000	D	1	D	4.77	H	-10.15	D	-4.98	D	0.945	6.600	31	0.998	0.973	D	1.133	D	1.000	D	0.707	0	5.73	0.991	1.061	0.998	0.997	13.970	Deleterious
191	1	241504083	T	A	Pathogenic/Likely pathogenic	FH	.	.	.	.	.	.	.	.	.	.	1	241504083	241504083	T	A	exonic	FH	.	synonymous SNV	FH:NM_000143:exon7:c.T1067T:p.L356L	1q43	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
192	1	241504123	C	T	Pathogenic	FH	.	.	.	.	.	.	.	.	.	.	1	241504123	241504123	C	T	exonic	FH	.	synonymous SNV	FH:NM_000143:exon7:c.C1027A:p.R343R	1q43	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
193	1	241504198	C	T	Pathogenic/Likely pathogenic	FH	.	.	.	.	.	.	.	.	.	.	1	241504198	241504198	C	T	exonic	FH	.	nonsynonymous SNV	FH:NM_000143:exon7:c.C952A:p.H318N	1q43	.	.	0.076	T	0.019	B	0.121	B	0.000	D	1	D	2.19	M	-6.32	D	-5.09	D	0.673	3.469	23.0	0.989	0.993	D	1.028	D	0.968	D	0.707	0	5.73	0.917	1.048	0.999	0.992	17.394	Deleterious
194	1	241508643	G	A	Pathogenic	FH	.	.	.	.	.	.	.	.	.	.	1	241508643	241508643	G	A	exonic	FH	.	nonsynonymous SNV	FH:NM_000143:exon5:c.G698T:p.R233L	1q43	.	rs121913123	0.0	D	1.0	D	1.0	D	0.000	D	1	D	4.765	H	-6.46	D	-6.84	D	0.996	8.060	35	0.999	0.993	D	0.927	D	0.995	D	0.722	0	5.65	0.871	0.935	0.976	0.871	17.578	Deleterious
195	1	241508644	C	T	Pathogenic	FH	.	.	.	.	.	.	.	.	.	.	1	241508644	241508644	C	T	exonic	FH	.	nonsynonymous SNV	FH:NM_000143:exon5:c.C697A:p.R233S	1q43	.	.	0.0	D	1.0	D	1.0	D	0.000	D	1	D	4.765	H	-6.48	D	-5.86	D	0.988	7.336	34	0.998	0.995	D	0.927	D	0.995	D	0.722	0	5.65	0.917	1.048	0.978	0.880	17.578	Deleterious
196	1	241513661	A	C	Pathogenic	FH	.	.	.	.	.	.	.	.	.	.	1	241513661	241513661	A	C	exonic	FH	.	nonsynonymous SNV	FH:NM_000143:exon3:c.A320G:p.N107S	1q43	.	.	0.005	D	1.0	D	0.997	D	0.000	D	1	D	4.07	H	-6.19	D	-4.65	D	0.412	3.293	22.8	0.998	0.956	D	0.975	D	0.991	D	0.737	0	5.85	0.991	1.061	1.000	1.000	14.194	Deleterious
197	1	241513680	C	T	Pathogenic	FH	.	.	.	.	.	.	.	.	.	.	1	241513680	241513680	C	T	exonic	FH	.	synonymous SNV	FH:NM_000143:exon3:c.C301A:p.R101R	1q43	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
198	2	21006289	C	T	Pathogenic/Likely pathogenic	APOB	.	.	.	.	.	.	.	.	.	.	2	21006289	21006289	C	T	exonic	APOB	.	synonymous SNV	APOB:NM_000384:exon26:c.C10579A:p.R3527R	2p24.1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
199	2	26195184	G	C	Pathogenic	HADHA|GAREM2	.	.	.	.	.	.	.	.	.	.	2	26195184	26195184	G	C	exonic	HADHA	.	synonymous SNV	HADHA:NM_000182:exon15:c.G1528G:p.E510E	2p23.3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
200	2	26212628	A	G	Pathogenic	HADHA	.	.	.	.	.	.	.	.	.	.	2	26212628	26212628	A	G	splicing	HADHA	NM_000182:exon10:c.919-2T>C	.	.	2p23.3	.	.	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	4.244	23.9	0.992	0.846	D	.	.	.	.	0.099	0	5.32	0.991	1.061	0.997	0.955	14.398	Deleterious (FATHMM)
201	2	26238931	A	G	Pathogenic	HADHA	.	.	.	.	.	.	.	.	.	.	2	26238931	26238931	A	G	intronic	HADHA	.	.	.	2p23.3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	probably Tolerated (Intron)
202	2	26238957	C	T	Pathogenic	HADHA	.	.	.	.	.	.	.	.	.	.	2	26238957	26238957	C	T	exonic	HADHA	.	synonymous SNV	HADHA:NM_000182:exon3:c.C157A:p.R53R	2p23.3	7.7e-05	rs147103714	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
203	2	26477210	C	T	Pathogenic, association	OTOF	.	.	.	.	.	.	.	.	.	.	2	26477210	26477210	C	T	exonic	OTOF	.	nonsynonymous SNV	OTOF:NM_194322:exon3:c.C415A:p.Q139K,OTOF:NM_004802:exon4:c.C244A:p.Q82K,OTOF:NM_194323:exon4:c.C244A:p.Q82K,OTOF:NM_001287489:exon21:c.C2485A:p.Q829K,OTOF:NM_194248:exon21:c.C2485A:p.Q829K	2p23.3	.	.	0.459	T	0.003	B	0.003	B	0.000	D	0.998	D	1.82	L	-1.04	T	-2.73	D	0.362	2.116	16.96	0.966	0.925	D	-0.382	T	0.424	T	0.554	0	5.0	0.917	0.933	0.992	1.000	16.870	Tolerated
204	2	26477725	G	T	Pathogenic	OTOF	.	.	.	.	.	.	.	.	.	.	2	26477725	26477725	G	T	exonic	OTOF	.	nonsynonymous SNV	OTOF:NM_194322:exon1:c.G169A:p.E57K,OTOF:NM_001287489:exon19:c.G2239A:p.E747K,OTOF:NM_194248:exon19:c.G2239A:p.E747K	2p23.3	.	.	0.426	T	0.995	D	0.919	D	0.000	D	1	D	1.965	M	-1.1	T	-2.01	N	0.907	4.063	23.7	0.999	0.994	D	-0.086	T	0.566	D	0.554	0	4.83	0.871	0.852	0.996	1.000	17.507	Deleterious
205	2	27312576	C	T	Pathogenic	MPV17	.	.	.	.	.	.	.	.	.	.	2	27312576	27312576	C	T	exonic	MPV17	.	nonsynonymous SNV	MPV17:NM_002437:exon5:c.C293A:p.P98Q	2p23.3	.	.	0.0	D	1.0	D	1.0	D	0.000	D	1	D	3.87	H	-3.04	D	-7.33	D	0.764	5.857	27.3	0.991	0.969	D	1.078	D	0.961	D	0.732	0	4.57	0.917	0.143	1.000	0.979	10.040	Deleterious
206	2	32127017	A	G	Pathogenic	SPAST	.	.	.	.	.	.	.	.	.	.	2	32127017	32127017	A	G	exonic	SPAST	.	nonsynonymous SNV	SPAST:NM_199436:exon7:c.A1072G:p.M358V,SPAST:NM_014946:exon8:c.A1168G:p.M390V	2p22.3	.	rs797044850	0.007	D	0.941	P	0.779	P	0.000	D	1	D	1.725	L	-3.54	D	-2.47	N	0.964	5.419	26.0	0.995	0.986	D	0.885	D	0.851	D	0.706	0	5.69	1.062	1.199	0.998	1.000	15.611	Deleterious
207	2	38075218	G	A	Pathogenic/Likely pathogenic	CYP1B1	.	.	.	.	.	.	.	.	.	.	2	38075218	38075218	G	A	exonic	CYP1B1	.	nonsynonymous SNV	CYP1B1:NM_000104:exon2:c.G171T:p.W57C	2p22.2	.	.	.	.	1.0	D	0.999	D	0.000	D	1	D	3.48	M	.	.	.	.	0.947	5.550	26.4	0.987	0.842	D	0.366	D	0.570	D	0.598	0	4.22	0.871	0.888	0.875	0.743	14.141	Deleterious
208	2	39007168	G	A	Pathogenic	SOS1	.	.	.	.	.	.	.	.	.	.	2	39007168	39007168	G	A	exonic	SOS1	.	stopgain	SOS1:NM_005633:exon16:c.G2536T:p.E846X	2p22.1	.	.	.	.	.	.	.	.	0.000	D	1	A	.	.	.	.	.	.	.	13.582	42	0.998	0.993	D	.	.	.	.	0.732	0	5.65	0.871	0.919	1.000	1.000	19.715	Deleterious (FATHMM)
209	2	39022772	G	T	Pathogenic	SOS1	.	.	.	.	.	.	.	.	.	.	2	39022772	39022772	G	T	exonic	SOS1	.	synonymous SNV	SOS1:NM_005633:exon10:c.G1656A:p.R552R	2p22.1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
210	2	39022772	G	C	Pathogenic	SOS1	.	.	.	.	.	.	.	.	.	.	2	39022772	39022772	G	C	exonic	SOS1	.	synonymous SNV	SOS1:NM_005633:exon10:c.G1656G:p.R552R	2p22.1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
211	2	39022773	G	A	Pathogenic	SOS1	.	.	.	.	.	.	.	.	.	.	2	39022773	39022773	G	A	exonic	SOS1	.	nonsynonymous SNV	SOS1:NM_005633:exon10:c.G1655T:p.R552M	2p22.1	.	.	0.0	D	1.0	D	1.0	D	0.000	D	1	D	2.78	M	-2.43	D	-5.67	D	0.963	6.175	28.6	0.963	0.955	D	0.849	D	0.849	D	0.707	0	5.78	0.871	0.935	0.998	0.998	20.004	Deleterious
212	2	39022773	G	C	Pathogenic	SOS1	.	.	.	.	.	.	.	.	.	.	2	39022773	39022773	G	C	exonic	SOS1	.	synonymous SNV	SOS1:NM_005633:exon10:c.G1655G:p.R552R	2p22.1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
213	2	39022774	A	G	Pathogenic	SOS1	.	.	.	.	.	.	.	.	.	.	2	39022774	39022774	A	G	exonic	SOS1	.	synonymous SNV	SOS1:NM_005633:exon10:c.A1654C:p.R552R	2p22.1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
214	2	39022786	A	C	Pathogenic	SOS1	.	.	.	.	.	.	.	.	.	.	2	39022786	39022786	A	C	exonic	SOS1	.	nonsynonymous SNV	SOS1:NM_005633:exon10:c.A1642G:p.S548G	2p22.1	.	.	0.012	D	0.995	D	0.921	D	0.000	D	1	D	2.39	M	-2.35	D	-3.48	D	0.73	2.561	19.86	0.998	0.778	D	0.766	D	0.804	D	0.707	0	5.78	0.991	1.061	0.992	0.936	16.103	Deleterious
215	2	39023106	G	A	Pathogenic	SOS1	.	.	.	.	.	.	.	.	.	.	2	39023106	39023106	G	A	exonic	SOS1	.	nonsynonymous SNV	SOS1:NM_005633:exon10:c.G1322T:p.C441F	2p22.1	.	.	0.001	D	0.999	D	0.98	D	0.000	D	1	D	2.395	M	-2.28	D	-9.8	D	0.983	6.131	28.4	0.993	0.990	D	0.716	D	0.798	D	0.707	0	5.52	0.871	0.935	0.999	1.000	19.8	Deleterious
216	2	39023118	T	C	Pathogenic	SOS1	.	.	.	.	.	.	.	.	.	.	2	39023118	39023118	T	C	exonic	SOS1	.	nonsynonymous SNV	SOS1:NM_005633:exon10:c.T1310G:p.I437S	2p22.1	.	rs397517150	0.0	D	0.994	D	0.983	D	0.000	D	1	D	2.25	M	-2.48	D	-4.81	D	0.953	5.509	26.3	0.994	0.992	D	0.782	D	0.807	D	0.707	0	5.52	1.062	1.199	1.000	1.000	15.932	Deleterious
217	2	39023128	G	A	Pathogenic	SOS1	.	.	.	.	.	.	.	.	.	.	2	39023128	39023128	G	A	exonic	SOS1	.	stopgain	SOS1:NM_005633:exon10:c.G1300T:p.G434X	2p22.1	.	.	.	.	.	.	.	.	0.000	D	1	A	.	.	.	.	.	.	.	10.939	37	0.992	0.990	D	.	.	.	.	0.707	0	5.52	0.871	0.935	1.000	1.000	19.8	Deleterious (FATHMM)
218	2	39023131	G	A	Pathogenic	SOS1	.	.	.	.	.	.	.	.	.	.	2	39023131	39023131	G	A	exonic	SOS1	.	stopgain	SOS1:NM_005633:exon10:c.G1297T:p.E433X	2p22.1	.	.	.	.	.	.	.	.	0.000	D	1	A	.	.	.	.	.	.	.	11.271	37	0.998	0.990	D	.	.	.	.	0.707	0	5.52	0.871	0.935	1.000	1.000	19.8	Deleterious (FATHMM)
219	2	39023134	T	C	Pathogenic	SOS1	.	.	.	.	.	.	.	.	.	.	2	39023134	39023134	T	C	exonic	SOS1	.	nonsynonymous SNV	SOS1:NM_005633:exon10:c.T1294G:p.W432G	2p22.1	.	.	0.0	D	1.0	D	0.984	D	0.000	D	1	D	2.365	M	-2.57	D	-12.05	D	0.958	4.988	25.1	0.980	0.992	D	0.800	D	0.813	D	0.707	0	5.52	1.062	1.199	1.000	0.998	15.932	Deleterious
220	2	39035440	G	T	Pathogenic	SOS1	.	.	.	.	.	.	.	.	.	.	2	39035440	39035440	G	T	exonic	SOS1	.	nonsynonymous SNV	SOS1:NM_005633:exon7:c.G925A:p.D309N	2p22.1	.	.	0.41	T	0.005	B	0.014	B	0.000	D	1.000	D	1.32	L	-0.03	T	-1.49	N	0.065	3.094	22.5	0.999	0.934	D	-0.874	T	0.209	T	0.732	0	5.55	0.871	0.935	0.949	0.998	19.505	Tolerated
221	2	39051202	T	C	Pathogenic	SOS1	.	.	.	.	.	.	.	.	.	.	2	39051202	39051202	T	C	exonic	SOS1	.	nonsynonymous SNV	SOS1:NM_005633:exon6:c.T806G:p.M269R	2p22.1	.	rs137852813	0.001	D	0.997	D	0.995	D	0.000	D	1	A	2.495	M	-3.04	D	-5.05	D	0.984	5.680	26.7	0.985	0.992	D	0.938	D	0.870	D	0.651	0	5.65	1.062	1.199	1.000	1.000	15.541	Deleterious
222	2	39051202	T	G	Pathogenic	SOS1	.	.	.	.	.	.	.	.	.	.	2	39051202	39051202	T	G	exonic	SOS1	.	nonsynonymous SNV	SOS1:NM_005633:exon6:c.T806C:p.M269T	2p22.1	.	rs137852813	0.001	D	0.991	D	0.988	D	0.000	D	1	D	2.15	M	-3.01	D	-4.59	D	0.987	5.218	25.6	0.987	0.991	D	0.897	D	0.855	D	0.651	0	5.65	1.062	1.199	1.000	1.000	15.541	Deleterious
223	2	39051211	C	A	Pathogenic	SOS1	.	.	.	.	.	.	.	.	.	.	2	39051211	39051211	C	A	exonic	SOS1	.	nonsynonymous SNV	SOS1:NM_005633:exon6:c.C797T:p.T266I	2p22.1	.	.	0.331	T	0.046	B	0.179	B	0.004	N	1.000	D	1.245	L	-2.98	D	-0.04	N	0.483	4.185	23.8	0.995	0.992	D	0.127	D	0.701	D	0.651	0	5.65	0.917	1.048	0.995	0.999	19.329	Deleterious
224	2	39056704	A	G	Pathogenic	SOS1	.	.	.	.	.	.	.	.	.	.	2	39056704	39056704	A	G	exonic	SOS1	.	nonsynonymous SNV	SOS1:NM_005633:exon4:c.A508C:p.K170Q	2p22.1	.	.	0.023	D	0.998	D	0.995	D	0.000	D	1	D	1.04	L	-1.95	D	-2.13	N	0.697	2.845	21.6	0.995	0.997	D	0.395	D	0.649	D	0.706	0	5.84	0.991	1.061	1.000	0.998	16.212	Deleterious
225	2	39058696	G	A	Pathogenic/Likely pathogenic	SOS1	.	.	.	.	.	.	.	.	.	.	2	39058696	39058696	G	A	exonic	SOS1	.	stopgain	SOS1:NM_005633:exon3:c.G322T:p.E108X	2p22.1	.	.	.	.	.	.	.	.	0.000	D	1	A	.	.	.	.	.	.	.	12.411	39	0.998	0.991	D	.	.	.	.	0.706	0	5.9	0.871	0.935	1.000	1.000	20.279	Deleterious (FATHMM)
226	2	43822924	C	T	Pathogenic/Likely pathogenic	DYNC2LI1|ABCG5	.	.	.	.	.	.	.	.	.	.	2	43822924	43822924	C	T	exonic	ABCG5	.	synonymous SNV	ABCG5:NM_022436:exon10:c.C1336A:p.R446R	2p21	.	rs199689137	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
227	2	43872094	G	A	Pathogenic	ABCG8	.	.	.	.	.	.	.	.	.	.	2	43872094	43872094	G	A	exonic	ABCG8	.	stopgain	ABCG8:NM_022437:exon7:c.G1083A:p.W361X	2p21	0.0010	rs137852987	.	.	.	.	.	.	0.000	D	1	A	.	.	.	.	.	.	.	11.758	38	0.997	0.985	D	.	.	.	.	0.487	0	4.9	0.917	1.048	0.979	0.906	18.090	Deleterious (FATHMM)
228	2	43875377	G	A	Pathogenic/Likely pathogenic	ABCG8	.	.	.	.	.	.	.	.	.	.	2	43875377	43875377	G	A	exonic	ABCG8	.	nonsynonymous SNV	ABCG8:NM_022437:exon11:c.G1720A:p.G574R	2p21	0.0002	rs137852988	0.005	D	1.0	D	0.978	D	0.000	D	0.000	A	2.015	M	-0.73	T	-4.98	D	0.893	4.146	23.8	0.987	0.963	D	0.030	D	0.455	T	0.487	0	2.77	0.917	0.127	0.229	0.067	10.519	Tolerated
229	2	44312653	T	C	Pathogenic	SLC3A1	.	.	.	.	.	.	.	.	.	.	2	44312653	44312653	T	C	exonic	SLC3A1	.	nonsynonymous SNV	SLC3A1:NM_000341:exon8:c.T1400C:p.M467T	2p21	0.0021	rs121912691	0.151	T	0.926	P	0.683	P	0.000	D	1	D	0.98	L	-5.91	D	-3.33	D	0.932	5.267	25.7	0.993	0.982	D	1.101	D	0.955	D	0.476	0	5.82	0.991	0.913	0.997	0.963	16.187	Deleterious
230	2	46950464	G	T	Pathogenic	TTC7A	.	.	.	.	.	.	.	.	.	.	2	46950464	46950464	G	T	exonic	TTC7A	.	stopgain	TTC7A:NM_001288951:exon2:c.G286T:p.E96X,TTC7A:NM_020458:exon2:c.G286T:p.E96X,TTC7A:NM_001288953:exon3:c.G184T:p.E62X	2p21	.	.	.	.	.	.	.	.	0.103	N	1	A	.	.	.	.	.	.	.	11.584	37	0.997	0.937	D	.	.	.	.	0.706	0	4.4	-0.044	1.048	0.075	0.858	17.145	Deleterious (FATHMM)
231	2	47412558	C	T	Pathogenic	MSH2	.	.	.	.	.	.	.	.	.	.	2	47412558	47412558	C	T	exonic	MSH2	.	stopgain	MSH2:NM_000251:exon4:c.C790T:p.Q264X,MSH2:NM_001258281:exon5:c.C592T:p.Q198X	2p21	.	.	.	.	.	.	.	.	0.000	D	1	A	.	.	.	.	.	.	.	11.551	37	0.998	0.994	D	.	.	.	.	0.732	0	5.54	0.871	0.935	0.997	0.990	19.486	Deleterious (FATHMM)
232	2	47783243	C	T	Pathogenic/Likely pathogenic	MSH6	.	.	.	.	.	.	.	.	.	.	2	47783243	47783243	C	T	exonic	MSH6	.	stopgain	MSH6:NM_000179:exon1:c.C10T:p.Q4X,MSH6:NM_001281492:exon1:c.C10T:p.Q4X	2p16.3	.	rs786201042	.	.	.	.	.	.	0.000	D	1	A	.	.	.	.	.	.	.	10.206	36	0.998	0.425	N	.	.	.	.	0.442	0	4.11	0.768	0.705	0.996	0.989	15.071	Deleterious (DANN)
233	2	47798972	C	A	Pathogenic	MSH6	.	.	.	.	.	.	.	.	.	.	2	47798972	47798972	C	A	exonic	MSH6	.	stopgain	MSH6:NM_001281492:exon2:c.C599A:p.S200X,MSH6:NM_001281493:exon3:c.C83A:p.S28X,MSH6:NM_000179:exon4:c.C989A:p.S330X,MSH6:NM_001281494:exon4:c.C83A:p.S28X	2p16.3	.	rs786202848	.	.	.	.	.	.	0.010	N	1	D	.	.	.	.	.	.	.	8.718	35	0.993	0.878	D	.	.	.	.	0.672	0	2.16	0.008	0.077	0.229	0.946	7.979	Deleterious (FATHMM)
234	2	47799788	C	G	Pathogenic	MSH6	.	.	.	.	.	.	.	.	.	.	2	47799788	47799788	C	G	exonic	MSH6	.	stopgain	MSH6:NM_001281492:exon2:c.C1415G:p.S472X,MSH6:NM_001281493:exon3:c.C899G:p.S300X,MSH6:NM_000179:exon4:c.C1805G:p.S602X,MSH6:NM_001281494:exon4:c.C899G:p.S300X	2p16.3	.	rs730881816	.	.	.	.	.	.	0.000	D	1	D	.	.	.	.	.	.	.	10.460	36	0.995	0.989	D	.	.	.	.	0.672	0	4.95	0.871	0.892	0.784	0.736	18.552	Deleterious (FATHMM)
235	2	47803419	G	C	Pathogenic/Likely pathogenic	MSH6	.	.	.	.	.	.	.	.	.	.	2	47803419	47803419	G	C	splicing	MSH6	NM_001281493:exon4:c.2267-1G>C,NM_000179:exon5:c.3173-1G>C,NM_001281492:exon3:c.2783-1G>C,NM_001281494:exon5:c.2267-1G>C	.	.	2p16.3	.	rs397515875	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	5.132	25.4	0.995	0.983	D	.	.	.	.	0.257	0	5.42	0.917	0.902	0.989	0.996	19.209	Deleterious (FATHMM)
236	2	61839695	A	T	Pathogenic	FAM161A	.	.	.	.	.	.	.	.	.	.	2	61839695	61839695	A	T	exonic	FAM161A	.	synonymous SNV	FAM161A:NM_001201543:exon3:c.A1309A:p.R437R,FAM161A:NM_032180:exon3:c.A1309A:p.R437R	2p15	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
237	2	71503308	C	T	Pathogenic	DYSF	.	.	.	.	.	.	.	.	.	.	2	71503308	71503308	C	T	exonic	DYSF	.	stopgain	DYSF:NM_001130455:exon4:c.C334T:p.Q112X,DYSF:NM_001130976:exon4:c.C331T:p.Q111X,DYSF:NM_001130977:exon4:c.C331T:p.Q111X,DYSF:NM_001130978:exon4:c.C331T:p.Q111X,DYSF:NM_001130979:exon4:c.C331T:p.Q111X,DYSF:NM_001130980:exon4:c.C331T:p.Q111X,DYSF:NM_001130981:exon4:c.C331T:p.Q111X,DYSF:NM_001130982:exon4:c.C334T:p.Q112X,DYSF:NM_001130983:exon4:c.C334T:p.Q112X,DYSF:NM_001130984:exon4:c.C334T:p.Q112X,DYSF:NM_001130985:exon4:c.C334T:p.Q112X,DYSF:NM_001130986:exon4:c.C334T:p.Q112X,DYSF:NM_001130987:exon4:c.C334T:p.Q112X,DYSF:NM_003494:exon4:c.C331T:p.Q111X	2p13.2	.	rs746315830	.	.	.	.	.	.	0.005	N	1	A	.	.	.	.	.	.	.	12.550	39	0.998	0.733	D	.	.	.	.	0.507	0	4.96	0.871	0.935	0.998	0.996	13.678	Deleterious (FATHMM)
238	2	71526295	C	T	Pathogenic	DYSF	.	.	.	.	.	.	.	.	.	.	2	71526295	71526295	C	T	exonic	DYSF	.	stopgain	DYSF:NM_001130455:exon12:c.C1132T:p.R378X,DYSF:NM_001130976:exon12:c.C1129T:p.R377X,DYSF:NM_001130977:exon12:c.C1129T:p.R377X,DYSF:NM_001130978:exon12:c.C1129T:p.R377X,DYSF:NM_001130983:exon12:c.C1132T:p.R378X,DYSF:NM_001130984:exon12:c.C1132T:p.R378X,DYSF:NM_001130986:exon12:c.C1132T:p.R378X,DYSF:NM_003494:exon12:c.C1129T:p.R377X,DYSF:NM_001130979:exon13:c.C1222T:p.R408X,DYSF:NM_001130980:exon13:c.C1222T:p.R408X,DYSF:NM_001130981:exon13:c.C1222T:p.R408X,DYSF:NM_001130982:exon13:c.C1225T:p.R409X,DYSF:NM_001130985:exon13:c.C1225T:p.R409X,DYSF:NM_001130987:exon13:c.C1225T:p.R409X	2p13.2	.	rs758180890	.	.	.	.	.	.	0.000	D	1	A	.	.	.	.	.	.	.	10.360	36	0.998	0.849	D	.	.	.	.	0.707	0	3.53	0.598	0.059	0.984	0.972	12.346	Deleterious (FATHMM)
239	2	71551631	C	T	Pathogenic	DYSF	.	.	.	.	.	.	.	.	.	.	2	71551631	71551631	C	T	exonic	DYSF	.	nonsynonymous SNV	DYSF:NM_001130976:exon18:c.C1621T:p.R541W,DYSF:NM_001130977:exon18:c.C1621T:p.R541W,DYSF:NM_001130984:exon18:c.C1624T:p.R542W,DYSF:NM_001130986:exon18:c.C1624T:p.R542W,DYSF:NM_001130455:exon19:c.C1666T:p.R556W,DYSF:NM_001130978:exon19:c.C1663T:p.R555W,DYSF:NM_001130980:exon19:c.C1714T:p.R572W,DYSF:NM_001130981:exon19:c.C1714T:p.R572W,DYSF:NM_001130983:exon19:c.C1666T:p.R556W,DYSF:NM_001130985:exon19:c.C1717T:p.R573W,DYSF:NM_001130987:exon19:c.C1717T:p.R573W,DYSF:NM_003494:exon19:c.C1663T:p.R555W,DYSF:NM_001130979:exon20:c.C1756T:p.R586W,DYSF:NM_001130982:exon20:c.C1759T:p.R587W	2p13.2	7.7e-05	rs377735262	0.001	D	1.0	D	1.0	D	0.000	D	1.000	D	3.04	M	-3.04	D	-7.22	D	0.985	7.847	35	0.999	0.903	D	0.999	D	0.902	D	0.707	0	4.57	-0.022	-0.035	0.876	0.942	12.975	Deleterious
240	2	71553092	C	T	Pathogenic	DYSF	.	.	.	.	.	.	.	.	.	.	2	71553092	71553092	C	T	exonic	DYSF	.	stopgain	DYSF:NM_001130976:exon19:c.C1792T:p.Q598X,DYSF:NM_001130977:exon19:c.C1792T:p.Q598X,DYSF:NM_001130984:exon19:c.C1795T:p.Q599X,DYSF:NM_001130986:exon19:c.C1795T:p.Q599X,DYSF:NM_001130455:exon20:c.C1837T:p.Q613X,DYSF:NM_001130978:exon20:c.C1834T:p.Q612X,DYSF:NM_001130980:exon20:c.C1885T:p.Q629X,DYSF:NM_001130981:exon20:c.C1885T:p.Q629X,DYSF:NM_001130983:exon20:c.C1837T:p.Q613X,DYSF:NM_001130985:exon20:c.C1888T:p.Q630X,DYSF:NM_001130987:exon20:c.C1888T:p.Q630X,DYSF:NM_003494:exon20:c.C1834T:p.Q612X,DYSF:NM_001130979:exon21:c.C1927T:p.Q643X,DYSF:NM_001130982:exon21:c.C1930T:p.Q644X	2p13.2	.	rs746873768	.	.	.	.	.	.	0.000	D	1	A	.	.	.	.	.	.	.	13.774	43	0.999	0.977	D	.	.	.	.	0.707	0	5.3	0.871	0.935	1.000	0.999	16.475	Deleterious (FATHMM)
241	2	71553110	G	C	Pathogenic/Likely pathogenic	DYSF	.	.	.	.	.	.	.	.	.	.	2	71553110	71553110	G	C	exonic	DYSF	.	nonsynonymous SNV	DYSF:NM_001130976:exon19:c.G1810C:p.G604R,DYSF:NM_001130977:exon19:c.G1810C:p.G604R,DYSF:NM_001130984:exon19:c.G1813C:p.G605R,DYSF:NM_001130986:exon19:c.G1813C:p.G605R,DYSF:NM_001130455:exon20:c.G1855C:p.G619R,DYSF:NM_001130978:exon20:c.G1852C:p.G618R,DYSF:NM_001130980:exon20:c.G1903C:p.G635R,DYSF:NM_001130981:exon20:c.G1903C:p.G635R,DYSF:NM_001130983:exon20:c.G1855C:p.G619R,DYSF:NM_001130985:exon20:c.G1906C:p.G636R,DYSF:NM_001130987:exon20:c.G1906C:p.G636R,DYSF:NM_003494:exon20:c.G1852C:p.G618R,DYSF:NM_001130979:exon21:c.G1945C:p.G649R,DYSF:NM_001130982:exon21:c.G1948C:p.G650R	2p13.2	.	.	0.0	D	1.0	D	1.0	D	0.000	D	1	D	3.055	M	-3.54	D	-7.19	D	0.992	7.069	33	0.999	0.990	D	1.047	D	0.924	D	0.707	0	5.3	0.917	1.048	1.000	0.945	16.475	Deleterious
242	2	71568083	G	A	Pathogenic/Likely pathogenic	DYSF	.	.	.	.	.	.	.	.	.	.	2	71568083	71568083	G	A	splicing	DYSF	NM_001130979:exon26:c.2736+1G>A,NM_001130976:exon24:c.2601+1G>A,NM_003494:exon25:c.2643+1G>A,NM_001130978:exon25:c.2643+1G>A,NM_001130981:exon25:c.2694+1G>A,NM_001130980:exon25:c.2694+1G>A,NM_001130977:exon24:c.2601+1G>A,NM_001130983:exon25:c.2646+1G>A,NM_001130982:exon26:c.2739+1G>A,NM_001130455:exon25:c.2646+1G>A,NM_001130986:exon24:c.2604+1G>A,NM_001130985:exon25:c.2697+1G>A,NM_001130987:exon25:c.2697+1G>A,NM_001130984:exon24:c.2604+1G>A	.	.	2p13.2	0.0006	rs140108514	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	5.590	26.5	0.995	0.992	D	.	.	.	.	0.156	0	4.94	0.917	1.038	0.985	0.980	15.669	Deleterious (FATHMM)
243	2	71570679	C	T	Pathogenic	DYSF	.	.	.	.	.	.	.	.	.	.	2	71570679	71570679	C	T	exonic	DYSF	.	stopgain	DYSF:NM_001130976:exon28:c.C3070T:p.R1024X,DYSF:NM_001130977:exon28:c.C3070T:p.R1024X,DYSF:NM_001130984:exon28:c.C3073T:p.R1025X,DYSF:NM_001130986:exon28:c.C3073T:p.R1025X,DYSF:NM_001130455:exon29:c.C3115T:p.R1039X,DYSF:NM_001130978:exon29:c.C3112T:p.R1038X,DYSF:NM_001130980:exon29:c.C3163T:p.R1055X,DYSF:NM_001130981:exon29:c.C3163T:p.R1055X,DYSF:NM_001130983:exon29:c.C3115T:p.R1039X,DYSF:NM_001130985:exon29:c.C3166T:p.R1056X,DYSF:NM_001130987:exon29:c.C3166T:p.R1056X,DYSF:NM_003494:exon29:c.C3112T:p.R1038X,DYSF:NM_001130979:exon30:c.C3205T:p.R1069X,DYSF:NM_001130982:exon30:c.C3208T:p.R1070X	2p13.2	.	rs369607332	.	.	.	.	.	.	0.000	D	1	A	.	.	.	.	.	.	.	12.315	39	0.998	0.770	D	.	.	.	.	0.707	0	2.05	-0.022	-0.035	0.836	0.964	3.634	Deleterious (FATHMM)
244	2	71590212	T	A	Pathogenic/Likely pathogenic	DYSF	.	.	.	.	.	.	.	.	.	.	2	71590212	71590212	T	A	exonic	DYSF	.	stopgain	DYSF:NM_001130976:exon31:c.T3402A:p.Y1134X,DYSF:NM_001130977:exon31:c.T3402A:p.Y1134X,DYSF:NM_001130984:exon31:c.T3405A:p.Y1135X,DYSF:NM_001130986:exon31:c.T3405A:p.Y1135X,DYSF:NM_001130455:exon32:c.T3447A:p.Y1149X,DYSF:NM_001130978:exon32:c.T3444A:p.Y1148X,DYSF:NM_001130980:exon32:c.T3495A:p.Y1165X,DYSF:NM_001130981:exon32:c.T3495A:p.Y1165X,DYSF:NM_001130983:exon32:c.T3447A:p.Y1149X,DYSF:NM_001130985:exon32:c.T3498A:p.Y1166X,DYSF:NM_001130987:exon32:c.T3498A:p.Y1166X,DYSF:NM_003494:exon32:c.T3444A:p.Y1148X,DYSF:NM_001130979:exon33:c.T3537A:p.Y1179X,DYSF:NM_001130982:exon33:c.T3540A:p.Y1180X	2p13.2	.	rs758944159	.	.	.	.	.	.	0.002	N	1	A	.	.	.	.	.	.	.	10.025	36	0.991	0.750	D	.	.	.	.	0.707	0	-5.01	0.991	0.964	0.995	0.994	13.129	Deleterious (FATHMM)
245	2	71612726	G	A	Pathogenic/Likely pathogenic	DYSF	.	.	.	.	.	.	.	.	.	.	2	71612726	71612726	G	A	exonic	DYSF	.	nonsynonymous SNV	DYSF:NM_001130976:exon38:c.G4211A:p.G1404D,DYSF:NM_001130977:exon38:c.G4211A:p.G1404D,DYSF:NM_001130984:exon38:c.G4214A:p.G1405D,DYSF:NM_001130986:exon38:c.G4214A:p.G1405D,DYSF:NM_001130455:exon39:c.G4256A:p.G1419D,DYSF:NM_001130978:exon39:c.G4253A:p.G1418D,DYSF:NM_001130980:exon39:c.G4304A:p.G1435D,DYSF:NM_001130981:exon39:c.G4304A:p.G1435D,DYSF:NM_001130983:exon39:c.G4256A:p.G1419D,DYSF:NM_001130985:exon39:c.G4307A:p.G1436D,DYSF:NM_001130987:exon39:c.G4307A:p.G1436D,DYSF:NM_003494:exon39:c.G4253A:p.G1418D,DYSF:NM_001130979:exon40:c.G4346A:p.G1449D,DYSF:NM_001130982:exon40:c.G4349A:p.G1450D	2p13.2	.	rs398123787	0.0	D	1.0	D	1.0	D	0.000	D	1.000	D	3.47	M	-3.89	D	-6.39	D	0.956	5.952	27.7	0.998	0.978	D	1.092	D	0.945	D	0.707	0	5.52	0.917	1.048	1.000	1.000	16.916	Deleterious
246	2	71665181	C	T	Pathogenic/Likely pathogenic	DYSF	.	.	.	.	.	.	.	.	.	.	2	71665181	71665181	C	T	exonic	DYSF	.	nonsynonymous SNV	DYSF:NM_001130976:exon45:c.C5035T:p.R1679W,DYSF:NM_001130986:exon45:c.C5038T:p.R1680W,DYSF:NM_001130455:exon46:c.C5080T:p.R1694W,DYSF:NM_001130977:exon46:c.C5098T:p.R1700W,DYSF:NM_001130980:exon46:c.C5128T:p.R1710W,DYSF:NM_001130984:exon46:c.C5101T:p.R1701W,DYSF:NM_001130985:exon46:c.C5131T:p.R1711W,DYSF:NM_003494:exon46:c.C5077T:p.R1693W,DYSF:NM_001130978:exon47:c.C5140T:p.R1714W,DYSF:NM_001130979:exon47:c.C5170T:p.R1724W,DYSF:NM_001130981:exon47:c.C5191T:p.R1731W,DYSF:NM_001130982:exon47:c.C5173T:p.R1725W,DYSF:NM_001130983:exon47:c.C5143T:p.R1715W,DYSF:NM_001130987:exon47:c.C5194T:p.R1732W	2p13.2	.	rs863225021	0.0	D	1.0	D	0.999	D	0.000	D	1.000	D	3.43	M	-2.3	D	-7.26	D	0.963	7.063	33	0.998	0.317	N	0.780	D	0.845	D	0.707	0	-4.46	0.067	-0.817	0.997	0.992	19.749	Deleterious
247	2	71668842	G	A	Pathogenic	DYSF	.	.	.	.	.	.	.	.	.	.	2	71668842	71668842	G	A	exonic	DYSF	.	nonsynonymous SNV	DYSF:NM_001130976:exon47:c.G5387A:p.R1796K,DYSF:NM_001130986:exon47:c.G5390A:p.R1797K,DYSF:NM_001130455:exon48:c.G5432A:p.R1811K,DYSF:NM_001130977:exon48:c.G5450A:p.R1817K,DYSF:NM_001130980:exon48:c.G5480A:p.R1827K,DYSF:NM_001130984:exon48:c.G5453A:p.R1818K,DYSF:NM_001130985:exon48:c.G5483A:p.R1828K,DYSF:NM_003494:exon48:c.G5429A:p.R1810K,DYSF:NM_001130978:exon49:c.G5492A:p.R1831K,DYSF:NM_001130979:exon49:c.G5522A:p.R1841K,DYSF:NM_001130981:exon49:c.G5543A:p.R1848K,DYSF:NM_001130982:exon49:c.G5525A:p.R1842K,DYSF:NM_001130983:exon49:c.G5495A:p.R1832K,DYSF:NM_001130987:exon49:c.G5546A:p.R1849K	2p13.2	.	rs786205084	0.939	T	0.15	B	0.075	B	0.000	D	0.999	D	0.295	N	-2.0	D	0.08	N	0.079	1.424	12.91	0.925	0.897	D	-0.570	T	0.331	T	0.707	0	4.87	0.917	0.953	0.650	0.965	15.542	Tolerated
248	2	71682597	C	T	Pathogenic	DYSF	.	.	.	.	.	.	.	.	.	.	2	71682597	71682597	C	T	exonic	DYSF	.	nonsynonymous SNV	DYSF:NM_001130976:exon53:c.C6082T:p.R2028C,DYSF:NM_001130986:exon53:c.C6085T:p.R2029C,DYSF:NM_001130455:exon54:c.C6127T:p.R2043C,DYSF:NM_001130977:exon54:c.C6145T:p.R2049C,DYSF:NM_001130980:exon54:c.C6175T:p.R2059C,DYSF:NM_001130984:exon54:c.C6148T:p.R2050C,DYSF:NM_001130985:exon54:c.C6178T:p.R2060C,DYSF:NM_003494:exon54:c.C6124T:p.R2042C,DYSF:NM_001130978:exon55:c.C6187T:p.R2063C,DYSF:NM_001130979:exon55:c.C6217T:p.R2073C,DYSF:NM_001130981:exon55:c.C6238T:p.R2080C,DYSF:NM_001130982:exon55:c.C6220T:p.R2074C,DYSF:NM_001130983:exon55:c.C6190T:p.R2064C,DYSF:NM_001130987:exon55:c.C6241T:p.R2081C	2p13.2	.	rs121908955	0.0	D	1.0	D	0.999	D	0.000	D	1.000	A	2.685	M	-1.78	D	-5.77	D	0.913	7.776	35	0.999	0.958	D	0.654	D	0.698	D	0.707	0	3.16	-0.058	0.935	0.844	0.997	11.550	Deleterious
249	2	73913565	C	T	Pathogenic	ACTG2	.	.	.	.	.	.	.	.	.	.	2	73913565	73913565	C	T	exonic	ACTG2	.	nonsynonymous SNV	ACTG2:NM_001199893:exon5:c.C403T:p.R135C,ACTG2:NM_001615:exon6:c.C532T:p.R178C	2p13.1	.	rs78001248	.	.	0.832	P	0.293	B	0.000	D	1	D	4.53	H	-3.62	D	-6.3	D	0.956	6.220	28.8	0.999	0.981	D	1.065	D	0.900	D	0.706	0	4.94	0.871	0.932	0.998	1.000	17.448	Deleterious
250	2	73913566	G	A	Pathogenic	ACTG2	.	.	.	.	.	.	.	.	.	.	2	73913566	73913566	G	A	exonic	ACTG2	.	nonsynonymous SNV	ACTG2:NM_001199893:exon5:c.G404A:p.R135H,ACTG2:NM_001615:exon6:c.G533A:p.R178H	2p13.1	.	rs587777384	.	.	0.672	P	0.293	B	0.000	D	1.000	D	2.95	M	-3.57	D	-3.87	D	0.926	4.440	24.2	0.999	0.989	D	0.921	D	0.849	D	0.706	0	4.94	0.917	1.045	0.996	1.000	17.448	Deleterious
251	2	73914835	C	T	Pathogenic	ACTG2	.	.	.	.	.	.	.	.	.	.	2	73914835	73914835	C	T	exonic	ACTG2	.	nonsynonymous SNV	ACTG2:NM_001199893:exon6:c.C640T:p.R214C,ACTG2:NM_001615:exon7:c.C769T:p.R257C	2p13.1	.	rs587777387	.	.	1.0	D	0.992	D	0.000	D	1	D	4.03	H	-3.58	D	-6.18	D	0.965	6.364	29.4	0.999	0.976	D	1.094	D	0.944	D	0.706	0	4.71	0.871	0.932	1.000	1.000	16.948	Deleterious
252	2	98370077	G	A	Pathogenic/Likely pathogenic	CNGA3	.	.	.	.	.	.	.	.	.	.	2	98370077	98370077	G	A	splicing	CNGA3	NM_001079878:exon2:c.101+1G>A,NM_001298:exon2:c.101+1G>A	.	.	2q11.2	0.0006	rs147118493	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	3.739	23.3	0.986	0.930	D	.	.	.	.	0.061	0	4.2	0.917	1.048	0.957	0.955	12.252	Deleterious (FATHMM)
253	2	108896995	G	A	Pathogenic/Likely pathogenic	RANBP2|EDAR	.	.	.	.	.	.	.	.	.	.	2	108896995	108896995	G	A	exonic	EDAR	.	nonsynonymous SNV	EDAR:NM_022336:exon12:c.G1259T:p.R420L	2q13	.	.	0.047	D	1.0	D	0.999	D	0.000	D	1	D	0.55	N	-2.08	D	-1.66	N	0.966	7.760	35	0.998	0.982	D	0.122	D	0.645	D	0.487	0	5.49	0.871	0.064	0.997	0.997	19.382	Deleterious
254	2	108897110	G	A	Pathogenic	RANBP2|EDAR	.	.	.	.	.	.	.	.	.	.	2	108897110	108897110	G	A	exonic	EDAR	.	nonsynonymous SNV	EDAR:NM_022336:exon12:c.G1144T:p.G382C	2q13	.	.	0.0	D	1.0	D	1.0	D	0.000	D	1	D	0.55	N	-2.53	D	-2.86	D	0.86	7.205	34	0.998	0.984	D	0.589	D	0.715	D	0.487	0	5.64	0.871	0.935	1.000	0.927	19.721	Deleterious
255	2	144398426	C	T	Pathogenic	ZEB2	.	.	.	.	.	.	.	.	.	.	2	144398426	144398426	C	T	exonic	ZEB2	.	synonymous SNV	ZEB2:NM_001171653:exon7:c.C2689A:p.R897R,ZEB2:NM_014795:exon8:c.C2761A:p.R921R	2q22.3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
256	2	144399104	C	T	Pathogenic	ZEB2	.	.	.	.	.	.	.	.	.	.	2	144399104	144399104	C	T	exonic	ZEB2	.	synonymous SNV	ZEB2:NM_001171653:exon7:c.C2011A:p.R671R,ZEB2:NM_014795:exon8:c.C2083A:p.R695R	2q22.3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
257	2	144400085	C	T	Pathogenic	ZEB2	.	.	.	.	.	.	.	.	.	.	2	144400085	144400085	C	T	exonic	ZEB2	.	nonsynonymous SNV	ZEB2:NM_001171653:exon7:c.C1030A:p.Q344K,ZEB2:NM_014795:exon8:c.C1102A:p.Q368K	2q22.3	.	.	0.003	D	0.998	D	0.997	D	0.000	D	1	D	1.79	L	2.45	T	-1.53	N	0.848	4.771	24.7	0.994	0.974	D	-1.061	T	0.118	T	0.707	0	5.64	0.917	1.048	0.985	1.000	19.716	Tolerated
258	2	144400160	C	T	Pathogenic	ZEB2	.	.	.	.	.	.	.	.	.	.	2	144400160	144400160	C	T	exonic	ZEB2	.	synonymous SNV	ZEB2:NM_001171653:exon7:c.C955A:p.R319R,ZEB2:NM_014795:exon8:c.C1027A:p.R343R	2q22.3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
259	2	144401211	C	T	Pathogenic	ZEB2	.	.	.	.	.	.	.	.	.	.	2	144401211	144401211	C	T	exonic	ZEB2	.	synonymous SNV	ZEB2:NM_001171653:exon6:c.C832A:p.R278R,ZEB2:NM_014795:exon7:c.C904A:p.R302R	2q22.3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
260	2	144404049	C	A	Pathogenic	ZEB2	.	.	.	.	.	.	.	.	.	.	2	144404049	144404049	C	A	exonic	ZEB2	.	nonsynonymous SNV	ZEB2:NM_001171653:exon5:c.C602T:p.S201L,ZEB2:NM_014795:exon6:c.C674T:p.S225L	2q22.3	.	.	0.0	D	1.0	D	0.998	D	0.000	D	1	D	1.115	L	1.63	T	-4.14	D	0.889	6.303	29.1	0.999	0.962	D	-0.907	T	0.155	T	0.719	0	5.65	0.917	0.953	0.998	0.999	19.733	Tolerated
261	2	147952440	A	G	Pathogenic/Likely pathogenic	ORC4	.	.	.	.	.	.	.	.	.	.	2	147952440	147952440	A	G	exonic	ORC4	.	nonsynonymous SNV	ORC4:NM_001190881:exon5:c.A269C:p.Y90S,ORC4:NM_001190882:exon7:c.A299C:p.Y100S,ORC4:NM_002552:exon8:c.A521C:p.Y174S,ORC4:NM_181741:exon8:c.A521C:p.Y174S,ORC4:NM_181742:exon8:c.A521C:p.Y174S,ORC4:NM_001190879:exon9:c.A521C:p.Y174S	2q23.1	.	.	0.0	D	0.995	D	0.963	D	0.000	D	1	D	2.785	M	0.48	T	-8.98	D	0.973	6.478	30	0.992	0.967	D	1.001	D	0.896	D	0.732	0	5.85	0.991	1.011	1.000	0.999	16.231	Deleterious
262	2	148947018	G	A	Pathogenic	KIF5C	.	.	.	.	.	.	.	.	.	.	2	148947018	148947018	G	A	exonic	KIF5C	.	nonsynonymous SNV	KIF5C:NM_004522:exon8:c.G709A:p.E237K	2q23.1	.	rs587777570	0.001	D	1.0	D	1.0	D	0.000	D	1	D	.	.	-1.85	D	-3.68	D	0.977	7.430	34	0.999	0.996	D	0.651	D	0.775	D	0.732	0	5.34	0.917	1.048	0.998	0.995	19.595	Deleterious
263	2	151551738	G	A	Pathogenic	NEB	.	.	.	.	.	.	.	.	.	.	2	151551738	151551738	G	A	exonic	NEB	.	synonymous SNV	NEB:NM_004543:exon101:c.G14805T:p.S4935S,NEB:NM_001164507:exon129:c.G19944T:p.S6648S,NEB:NM_001164508:exon129:c.G19944T:p.S6648S,NEB:NM_001271208:exon129:c.G19944T:p.S6648S	2q23.3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
264	2	165310413	C	T	Pathogenic	SCN2A	.	.	.	.	.	.	.	.	.	.	2	165310413	165310413	C	T	exonic	SCN2A	.	nonsynonymous SNV	SCN2A:NM_001040143:exon6:c.C788T:p.A263V,SCN2A:NM_001040142:exon7:c.C788T:p.A263V,SCN2A:NM_021007:exon7:c.C788T:p.A263V	2q24.3	.	rs387906686	0.0	D	1.0	D	0.999	D	0.000	D	1	D	4.345	H	-4.95	D	-3.91	D	0.987	6.276	29.0	0.999	0.980	D	1.035	D	0.982	D	0.554	0	5.27	0.871	0.935	0.978	0.859	19.241	Deleterious
265	2	165342465	G	A	Pathogenic/Likely pathogenic	SCN2A	.	.	.	.	.	.	.	.	.	.	2	165342465	165342465	G	A	exonic	SCN2A	.	nonsynonymous SNV	SCN2A:NM_001040143:exon14:c.G2558A:p.R853Q,SCN2A:NM_001040142:exon15:c.G2558A:p.R853Q,SCN2A:NM_021007:exon15:c.G2558A:p.R853Q	2q24.3	.	rs794727152	0.001	D	1.0	D	0.999	D	0.000	D	1.000	D	3.515	H	-5.12	D	-3.65	D	0.919	7.468	34	1.000	0.997	D	1.065	D	0.980	D	0.487	0	5.48	0.917	1.048	0.988	0.999	19.334	Deleterious
266	2	165354232	G	T	Pathogenic/Likely pathogenic	SCN2A	.	.	.	.	.	.	.	.	.	.	2	165354232	165354232	G	T	exonic	SCN2A	.	nonsynonymous SNV	SCN2A:NM_001040143:exon16:c.G2960T:p.S987I,SCN2A:NM_001040142:exon17:c.G2960T:p.S987I,SCN2A:NM_021007:exon17:c.G2960T:p.S987I	2q24.3	.	rs796053124	0.0	D	0.975	D	0.805	P	0.000	D	1.000	D	3.925	H	-4.52	D	-5.73	D	0.718	5.585	26.5	0.996	0.992	D	1.082	D	0.964	D	0.487	0	4.81	0.917	0.127	0.995	0.995	14.821	Deleterious
267	2	165367327	G	A	Pathogenic/Likely pathogenic	SCN2A	.	.	.	.	.	.	.	.	.	.	2	165367327	165367327	G	A	exonic	SCN2A	.	nonsynonymous SNV	SCN2A:NM_001040143:exon18:c.G3631A:p.E1211K,SCN2A:NM_001040142:exon19:c.G3631A:p.E1211K,SCN2A:NM_021007:exon19:c.G3631A:p.E1211K	2q24.3	.	rs387906684	0.0	D	0.999	D	0.936	D	0.000	D	1	D	2.795	M	-3.46	D	-3.82	D	0.973	7.622	34	0.999	0.993	D	1.004	D	0.919	D	0.487	0	6.07	0.917	1.048	1.000	1.000	20.659	Deleterious
268	2	165388683	G	A	Pathogenic	SCN2A	.	.	.	.	.	.	.	.	.	.	2	165388683	165388683	G	A	exonic	SCN2A	.	nonsynonymous SNV	SCN2A:NM_001040143:exon26:c.G4877A:p.R1626Q,SCN2A:NM_001040142:exon27:c.G4877A:p.R1626Q,SCN2A:NM_021007:exon27:c.G4877A:p.R1626Q	2q24.3	.	rs796053155	0.0	D	0.999	D	0.998	D	0.000	D	1.000	D	3.53	H	-4.67	D	-3.48	D	0.953	5.403	26.0	0.999	0.992	D	1.087	D	0.971	D	0.487	0	5.49	0.917	1.048	0.999	0.998	19.803	Deleterious
269	2	165389451	G	A	Pathogenic/Likely pathogenic	SCN2A	.	.	.	.	.	.	.	.	.	.	2	165389451	165389451	G	A	exonic	SCN2A	.	nonsynonymous SNV	SCN2A:NM_001040143:exon26:c.G5645A:p.R1882Q,SCN2A:NM_001040142:exon27:c.G5645A:p.R1882Q,SCN2A:NM_021007:exon27:c.G5645A:p.R1882Q	2q24.3	.	rs794727444	0.001	D	0.994	D	0.986	D	0.000	D	1.000	D	2.5	M	-3.92	D	-3.12	D	0.811	6.414	29.7	0.999	0.997	D	1.041	D	0.928	D	0.554	0	5.53	0.866	0.998	0.998	0.971	19.885	Deleterious
270	2	165991601	C	T	Pathogenic	SCN1A|LOC102724058	.	.	.	.	.	.	.	.	.	.	2	165991601	165991601	C	T	exonic	SCN1A	.	synonymous SNV	SCN1A:NM_001165963:exon26:c.C5674A:p.R1892R,SCN1A:NM_001165964:exon26:c.C5590A:p.R1864R,SCN1A:NM_006920:exon26:c.C5641A:p.R1881R,SCN1A:NM_001202435:exon28:c.C5674A:p.R1892R	2q24.3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
271	2	165991619	C	T	Pathogenic	SCN1A|LOC102724058	.	.	.	.	.	.	.	.	.	.	2	165991619	165991619	C	T	exonic	SCN1A	.	synonymous SNV	SCN1A:NM_001165963:exon26:c.C5656A:p.R1886R,SCN1A:NM_001165964:exon26:c.C5572A:p.R1858R,SCN1A:NM_006920:exon26:c.C5623A:p.R1875R,SCN1A:NM_001202435:exon28:c.C5656A:p.R1886R	2q24.3	.	rs779614747	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
272	2	165991927	C	T	Pathogenic	SCN1A|LOC102724058	.	.	.	.	.	.	.	.	.	.	2	165991927	165991927	C	T	exonic	SCN1A	.	nonsynonymous SNV	SCN1A:NM_001165963:exon26:c.C5348A:p.A1783E,SCN1A:NM_001165964:exon26:c.C5264A:p.A1755E,SCN1A:NM_006920:exon26:c.C5315A:p.A1772E,SCN1A:NM_001202435:exon28:c.C5348A:p.A1783E	2q24.3	.	.	0.0	D	1.0	D	1.0	D	0.000	D	1	D	4.37	H	-5.65	D	-4.6	D	0.985	6.314	29.2	0.993	0.996	D	0.980	D	0.990	D	0.487	0	5.69	0.917	1.048	0.999	0.665	19.823	Deleterious
273	2	165991928	G	A	Pathogenic	SCN1A|LOC102724058	.	.	.	.	.	.	.	.	.	.	2	165991928	165991928	G	A	exonic	SCN1A	.	nonsynonymous SNV	SCN1A:NM_001165963:exon26:c.G5347T:p.A1783S,SCN1A:NM_001165964:exon26:c.G5263T:p.A1755S,SCN1A:NM_006920:exon26:c.G5314T:p.A1772S,SCN1A:NM_001202435:exon28:c.G5347T:p.A1783S	2q24.3	.	.	0.0	D	1.0	D	0.999	D	0.000	D	1	D	3.565	H	-5.62	D	-2.76	D	0.84	6.569	31	0.998	0.993	D	1.034	D	0.986	D	0.487	0	5.69	0.871	0.935	0.999	0.668	19.823	Deleterious
274	2	165992053	G	A	Pathogenic	SCN1A|LOC102724058	.	.	.	.	.	.	.	.	.	.	2	165992053	165992053	G	A	exonic	SCN1A	.	nonsynonymous SNV	SCN1A:NM_001165963:exon26:c.G5222T:p.C1741F,SCN1A:NM_001165964:exon26:c.G5138T:p.C1713F,SCN1A:NM_006920:exon26:c.G5189T:p.C1730F,SCN1A:NM_001202435:exon28:c.G5222T:p.C1741F	2q24.3	.	.	0.0	D	1.0	D	0.999	D	0.000	D	1	D	3.9	H	-4.63	D	-10.13	D	0.983	6.702	32	0.992	0.996	D	1.074	D	0.975	D	0.487	0	5.69	0.871	0.876	0.999	0.983	19.823	Deleterious
275	2	165992368	G	A	Pathogenic/Likely pathogenic, not provided	SCN1A|LOC102724058	.	.	.	.	.	.	.	.	.	.	2	165992368	165992368	G	A	exonic	SCN1A	.	nonsynonymous SNV	SCN1A:NM_001165963:exon26:c.G4907T:p.R1636L,SCN1A:NM_001165964:exon26:c.G4823T:p.R1608L,SCN1A:NM_006920:exon26:c.G4874T:p.R1625L,SCN1A:NM_001202435:exon28:c.G4907T:p.R1636L	2q24.3	.	.	0.008	D	1.0	D	0.999	D	0.000	D	1	D	3.6	H	-4.68	D	-6.09	D	0.963	7.402	34	0.998	0.995	D	1.090	D	0.970	D	0.487	0	5.27	0.871	0.935	0.999	1.000	18.899	Deleterious
276	2	165992369	C	T	Pathogenic	SCN1A|LOC102724058	.	.	.	.	.	.	.	.	.	.	2	165992369	165992369	C	T	exonic	SCN1A	.	synonymous SNV	SCN1A:NM_001165963:exon26:c.C4906A:p.R1636R,SCN1A:NM_001165964:exon26:c.C4822A:p.R1608R,SCN1A:NM_006920:exon26:c.C4873A:p.R1625R,SCN1A:NM_001202435:exon28:c.C4906A:p.R1636R	2q24.3	0.0002	rs199727342	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
277	2	165996021	C	T	Pathogenic	SCN1A|LOC102724058	.	.	.	.	.	.	.	.	.	.	2	165996021	165996021	C	T	exonic	SCN1A	.	synonymous SNV	SCN1A:NM_001165963:exon24:c.C4573A:p.R1525R,SCN1A:NM_001165964:exon24:c.C4489A:p.R1497R,SCN1A:NM_006920:exon24:c.C4540A:p.R1514R,SCN1A:NM_001202435:exon26:c.C4573A:p.R1525R	2q24.3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
278	2	165996045	A	T	Pathogenic	SCN1A|LOC102724058	.	.	.	.	.	.	.	.	.	.	2	165996045	165996045	A	T	exonic	SCN1A	.	synonymous SNV	SCN1A:NM_001165963:exon24:c.A4549A:p.K1517K,SCN1A:NM_001165964:exon24:c.A4465A:p.K1489K,SCN1A:NM_006920:exon24:c.A4516A:p.K1506K,SCN1A:NM_001202435:exon26:c.A4549A:p.K1517K	2q24.3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
279	2	165998037	A	G	Pathogenic	SCN1A|LOC102724058	.	.	.	.	.	.	.	.	.	.	2	165998037	165998037	A	G	splicing	SCN1A	NM_001165964:exon23:c.4392+1T>C,NM_006920:exon23:c.4443+1T>C,NM_001165963:exon23:c.4476+1T>C,NM_001202435:exon25:c.4476+1T>C	.	.	2q24.3	.	.	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	5.126	25.4	0.994	0.981	D	.	.	.	.	0.061	0	5.15	0.970	1.009	0.999	1.000	14.958	Deleterious (FATHMM)
280	2	166002588	G	A	Pathogenic	SCN1A|LOC102724058	.	.	.	.	.	.	.	.	.	.	2	166002588	166002588	G	A	exonic	SCN1A	.	nonsynonymous SNV	SCN1A:NM_001165963:exon21:c.G4168T:p.V1390L,SCN1A:NM_001165964:exon21:c.G4084T:p.V1362L,SCN1A:NM_006920:exon21:c.G4135T:p.V1379L,SCN1A:NM_001202435:exon23:c.G4168T:p.V1390L	2q24.3	.	.	0.001	D	0.067	B	0.096	B	0.004	N	1.000	D	2.715	M	-4.02	D	-2.44	N	0.875	4.860	24.9	0.976	0.963	D	0.764	D	0.879	D	0.487	0	5.54	0.871	0.892	0.836	0.940	13.560	Deleterious
281	2	166009736	C	T	Pathogenic	SCN1A|LOC102724058	.	.	.	.	.	.	.	.	.	.	2	166009736	166009736	C	T	exonic	SCN1A	.	synonymous SNV	SCN1A:NM_001165963:exon20:c.C3985A:p.R1329R,SCN1A:NM_001165964:exon20:c.C3901A:p.R1301R,SCN1A:NM_006920:exon20:c.C3952A:p.R1318R,SCN1A:NM_001202435:exon22:c.C3985A:p.R1329R	2q24.3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
282	2	166012210	A	C	Pathogenic	SCN1A|LOC102724058	.	.	.	.	.	.	.	.	.	.	2	166012210	166012210	A	C	exonic	SCN1A	.	nonsynonymous SNV	SCN1A:NM_001165963:exon19:c.A3778G:p.T1260A,SCN1A:NM_001165964:exon19:c.A3694G:p.T1232A,SCN1A:NM_006920:exon19:c.A3745G:p.T1249A,SCN1A:NM_001202435:exon21:c.A3778G:p.T1260A	2q24.3	.	.	0.001	D	0.997	D	0.992	D	0.000	D	1	D	2.315	M	-5.15	D	-4.43	D	0.906	5.618	26.6	0.998	0.919	D	1.108	D	0.965	D	0.487	0	5.5	0.991	1.061	1.000	0.999	15.592	Deleterious
283	2	166012255	C	T	Pathogenic	SCN1A|LOC102724058	.	.	.	.	.	.	.	.	.	.	2	166012255	166012255	C	T	exonic	SCN1A	.	synonymous SNV	SCN1A:NM_001165963:exon19:c.C3733A:p.R1245R,SCN1A:NM_001165964:exon19:c.C3649A:p.R1217R,SCN1A:NM_006920:exon19:c.C3700A:p.R1234R,SCN1A:NM_001202435:exon21:c.C3733A:p.R1245R	2q24.3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
284	2	166013812	C	T	Pathogenic	SCN1A|LOC102724058	.	.	.	.	.	.	.	.	.	.	2	166013812	166013812	C	T	exonic	SCN1A	.	synonymous SNV	SCN1A:NM_001165963:exon18:c.C3637A:p.R1213R,SCN1A:NM_001165964:exon18:c.C3553A:p.R1185R,SCN1A:NM_006920:exon18:c.C3604A:p.R1202R,SCN1A:NM_001202435:exon20:c.C3637A:p.R1213R	2q24.3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
285	2	166037775	G	T	Pathogenic	SCN1A	.	.	.	.	.	.	.	.	.	.	2	166037775	166037775	G	T	splicing	SCN1A	NM_001165964:exon15:c.2862+1C>A,NM_006920:exon15:c.2913+1C>A,NM_001165963:exon15:c.2946+1C>A,NM_001202435:exon17:c.2946+1C>A	.	.	2q24.3	.	.	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	5.639	26.6	0.995	0.986	D	.	.	.	.	0.054	0	5.18	0.871	0.892	0.998	1.000	19.049	Deleterious (FATHMM)
286	2	166037846	G	A	Pathogenic	SCN1A	.	.	.	.	.	.	.	.	.	.	2	166037846	166037846	G	A	exonic	SCN1A	.	nonsynonymous SNV	SCN1A:NM_001165963:exon15:c.G2876T:p.C959F,SCN1A:NM_001165964:exon15:c.G2792T:p.C931F,SCN1A:NM_006920:exon15:c.G2843T:p.C948F,SCN1A:NM_001202435:exon17:c.G2876T:p.C959F	2q24.3	.	.	0.0	D	1.0	D	0.997	D	0.000	D	1	D	3.335	M	-4.44	D	-10.65	D	0.975	6.836	33	0.992	0.987	D	1.099	D	0.961	D	0.554	0	5.18	0.871	0.892	0.998	0.995	19.049	Deleterious
287	2	166037885	G	A	Pathogenic	SCN1A	.	.	.	.	.	.	.	.	.	.	2	166037885	166037885	G	A	exonic	SCN1A	.	nonsynonymous SNV	SCN1A:NM_001165963:exon15:c.G2837T:p.R946L,SCN1A:NM_001165964:exon15:c.G2753T:p.R918L,SCN1A:NM_006920:exon15:c.G2804T:p.R935L,SCN1A:NM_001202435:exon17:c.G2837T:p.R946L	2q24.3	.	.	0.0	D	1.0	D	0.997	D	0.000	D	1	D	3.515	H	-5.16	D	-6.77	D	0.954	7.714	35	0.998	0.960	D	1.064	D	0.979	D	0.554	0	5.18	0.871	0.892	0.998	0.997	19.049	Deleterious
288	2	166037886	C	T	Pathogenic	SCN1A	.	.	.	.	.	.	.	.	.	.	2	166037886	166037886	C	T	exonic	SCN1A	.	nonsynonymous SNV	SCN1A:NM_001165963:exon15:c.C2836A:p.R946S,SCN1A:NM_001165964:exon15:c.C2752A:p.R918S,SCN1A:NM_006920:exon15:c.C2803A:p.R935S,SCN1A:NM_001202435:exon17:c.C2836A:p.R946S	2q24.3	.	rs121918775	0.0	D	1.0	D	0.997	D	0.000	D	1.000	D	3.515	H	-5.13	D	-5.8	D	0.982	6.867	33	0.997	0.947	D	1.064	D	0.979	D	0.554	0	5.18	0.917	0.998	0.999	0.997	19.049	Deleterious
289	2	166037930	G	C	Pathogenic/Likely pathogenic	SCN1A	.	.	.	.	.	.	.	.	.	.	2	166037930	166037930	G	C	exonic	SCN1A	.	synonymous SNV	SCN1A:NM_001165963:exon15:c.G2792G:p.R931R,SCN1A:NM_001165964:exon15:c.G2708G:p.R903R,SCN1A:NM_006920:exon15:c.G2759G:p.R920R,SCN1A:NM_001202435:exon17:c.G2792G:p.R931R	2q24.3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
290	2	166037930	G	A	Pathogenic	SCN1A	.	.	.	.	.	.	.	.	.	.	2	166037930	166037930	G	A	exonic	SCN1A	.	nonsynonymous SNV	SCN1A:NM_001165963:exon15:c.G2792T:p.R931L,SCN1A:NM_001165964:exon15:c.G2708T:p.R903L,SCN1A:NM_006920:exon15:c.G2759T:p.R920L,SCN1A:NM_001202435:exon17:c.G2792T:p.R931L	2q24.3	.	.	0.0	D	1.0	D	0.997	D	0.000	D	1	D	3.425	M	-4.97	D	-6.77	D	0.941	7.456	34	0.998	0.952	D	1.083	D	0.974	D	0.554	0	5.18	0.871	0.892	0.997	0.980	19.049	Deleterious
291	2	166037931	C	T	Pathogenic/Likely pathogenic, not provided	SCN1A	.	.	.	.	.	.	.	.	.	.	2	166037931	166037931	C	T	exonic	SCN1A	.	nonsynonymous SNV	SCN1A:NM_001165963:exon15:c.C2791A:p.R931S,SCN1A:NM_001165964:exon15:c.C2707A:p.R903S,SCN1A:NM_006920:exon15:c.C2758A:p.R920S,SCN1A:NM_001202435:exon17:c.C2791A:p.R931S	2q24.3	.	.	0.0	D	1.0	D	0.997	D	0.000	D	1	D	3	M	-4.91	D	-5.8	D	0.955	6.848	33	0.998	0.938	D	1.098	D	0.970	D	0.554	0	5.18	0.917	0.998	0.996	0.976	19.049	Deleterious
292	2	166039420	A	T	Pathogenic	SCN1A	.	.	.	.	.	.	.	.	.	.	2	166039420	166039420	A	T	intronic	SCN1A	.	.	.	2q24.3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	probably Tolerated (Intron)
293	2	166039428	C	T	Pathogenic	SCN1A	.	.	.	.	.	.	.	.	.	.	2	166039428	166039428	C	T	exonic	SCN1A	.	synonymous SNV	SCN1A:NM_001165963:exon14:c.C2584A:p.R862R,SCN1A:NM_001165964:exon14:c.C2500A:p.R834R,SCN1A:NM_006920:exon14:c.C2551A:p.R851R,SCN1A:NM_001202435:exon16:c.C2584A:p.R862R	2q24.3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
294	2	166039436	G	A	Pathogenic	SCN1A	.	.	.	.	.	.	.	.	.	.	2	166039436	166039436	G	A	exonic	SCN1A	.	nonsynonymous SNV	SCN1A:NM_001165963:exon14:c.G2576T:p.R859L,SCN1A:NM_001165964:exon14:c.G2492T:p.R831L,SCN1A:NM_006920:exon14:c.G2543T:p.R848L,SCN1A:NM_001202435:exon16:c.G2576T:p.R859L	2q24.3	.	.	0.0	D	1.0	D	0.993	D	0.000	D	1	D	4.44	H	-4.93	D	-6.43	D	0.974	8.196	35	0.999	0.997	D	1.028	D	0.981	D	0.487	0	4.75	0.871	0.852	0.999	0.996	18.109	Deleterious
295	2	166042334	C	T	Pathogenic	SCN1A	.	.	.	.	.	.	.	.	.	.	2	166042334	166042334	C	T	exonic	SCN1A	.	synonymous SNV	SCN1A:NM_001165963:exon12:c.C2134A:p.R712R,SCN1A:NM_001165964:exon12:c.C2050A:p.R684R,SCN1A:NM_006920:exon12:c.C2101A:p.R701R,SCN1A:NM_001202435:exon14:c.C2134A:p.R712R	2q24.3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
296	2	166043875	C	T	Pathogenic	SCN1A	.	.	.	.	.	.	.	.	.	.	2	166043875	166043875	C	T	exonic	SCN1A	.	synonymous SNV	SCN1A:NM_001165963:exon11:c.C1837A:p.R613R,SCN1A:NM_001165964:exon11:c.C1837A:p.R613R,SCN1A:NM_006920:exon11:c.C1837A:p.R613R,SCN1A:NM_001202435:exon13:c.C1837A:p.R613R	2q24.3	.	rs398123585	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
297	2	166043974	C	T	Pathogenic	SCN1A	.	.	.	.	.	.	.	.	.	.	2	166043974	166043974	C	T	exonic	SCN1A	.	synonymous SNV	SCN1A:NM_001165963:exon11:c.C1738A:p.R580R,SCN1A:NM_001165964:exon11:c.C1738A:p.R580R,SCN1A:NM_006920:exon11:c.C1738A:p.R580R,SCN1A:NM_001202435:exon13:c.C1738A:p.R580R	2q24.3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
298	2	166045081	C	T	Pathogenic	SCN1A	.	.	.	.	.	.	.	.	.	.	2	166045081	166045081	C	T	exonic	SCN1A	.	synonymous SNV	SCN1A:NM_001165963:exon10:c.C1624A:p.R542R,SCN1A:NM_001165964:exon10:c.C1624A:p.R542R,SCN1A:NM_006920:exon10:c.C1624A:p.R542R,SCN1A:NM_001202435:exon12:c.C1624A:p.R542R	2q24.3	0.0002	rs138877187	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
299	2	166046870	A	G	Pathogenic	SCN1A	.	.	.	.	.	.	.	.	.	.	2	166046870	166046870	A	G	exonic	SCN1A	.	nonsynonymous SNV	SCN1A:NM_001165963:exon9:c.A1277C:p.Y426S,SCN1A:NM_001165964:exon9:c.A1277C:p.Y426S,SCN1A:NM_006920:exon9:c.A1277C:p.Y426S,SCN1A:NM_001202435:exon11:c.A1277C:p.Y426S	2q24.3	.	.	0.0	D	1.0	D	0.998	D	0.000	D	1.000	D	3.41	M	-4.41	D	-8.84	D	0.987	6.087	28.2	0.992	0.949	D	1.103	D	0.960	D	0.487	0	5.31	0.991	0.964	1.000	0.955	15.564	Deleterious
300	2	166046969	G	A	Pathogenic	SCN1A	.	.	.	.	.	.	.	.	.	.	2	166046969	166046969	G	A	exonic	SCN1A	.	nonsynonymous SNV	SCN1A:NM_001165963:exon9:c.G1178T:p.R393L,SCN1A:NM_001165964:exon9:c.G1178T:p.R393L,SCN1A:NM_006920:exon9:c.G1178T:p.R393L,SCN1A:NM_001202435:exon11:c.G1178T:p.R393L	2q24.3	.	.	0.0	D	1.0	D	0.998	D	0.000	D	1	D	3.56	H	-5.05	D	-6.88	D	0.99	7.934	35	0.999	0.988	D	1.066	D	0.980	D	0.487	0	5.49	0.871	0.935	1.000	0.993	19.744	Deleterious
301	2	166046970	C	T	Pathogenic	SCN1A	.	.	.	.	.	.	.	.	.	.	2	166046970	166046970	C	T	exonic	SCN1A	.	nonsynonymous SNV	SCN1A:NM_001165963:exon9:c.C1177A:p.R393S,SCN1A:NM_001165964:exon9:c.C1177A:p.R393S,SCN1A:NM_006920:exon9:c.C1177A:p.R393S,SCN1A:NM_001202435:exon11:c.C1177A:p.R393S	2q24.3	.	rs121917929	0.0	D	1.0	D	0.998	D	0.000	D	1.000	D	2.91	M	-5.03	D	-5.89	D	0.994	6.726	32	0.998	0.961	D	1.094	D	0.974	D	0.487	0	5.49	0.917	1.048	0.999	0.993	19.744	Deleterious
302	2	166047667	G	A	Pathogenic/Likely pathogenic, not provided	SCN1A	.	.	.	.	.	.	.	.	.	.	2	166047667	166047667	G	A	exonic	SCN1A	.	nonsynonymous SNV	SCN1A:NM_001165963:exon8:c.G1130T:p.R377L,SCN1A:NM_001165964:exon8:c.G1130T:p.R377L,SCN1A:NM_006920:exon8:c.G1130T:p.R377L,SCN1A:NM_001202435:exon10:c.G1130T:p.R377L	2q24.3	.	.	0.0	D	1.0	D	0.999	D	0.000	D	1.000	D	2.76	M	-4.09	D	-6.88	D	0.978	7.715	35	0.999	0.990	D	1.087	D	0.944	D	0.487	0	5.22	0.871	0.935	1.000	1.000	19.135	Deleterious
303	2	166048950	G	A	Pathogenic	SCN1A	.	.	.	.	.	.	.	.	.	.	2	166048950	166048950	G	A	splicing	SCN1A	NM_001165964:exon7:c.965-1C>T,NM_006920:exon7:c.965-1C>T,NM_001165963:exon7:c.965-1C>T,NM_001202435:exon9:c.965-1C>T	.	.	2q24.3	.	.	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	5.668	26.7	0.995	0.994	D	.	.	.	.	0.127	0	5.27	0.871	0.935	1.000	0.996	19.259	Deleterious (FATHMM)
304	2	166051914	T	C	Pathogenic/Likely pathogenic	SCN1A	.	.	.	.	.	.	.	.	.	.	2	166051914	166051914	T	C	exonic	SCN1A	.	nonsynonymous SNV	SCN1A:NM_001165963:exon6:c.T769G:p.C257G,SCN1A:NM_001165964:exon6:c.T769G:p.C257G,SCN1A:NM_006920:exon6:c.T769G:p.C257G,SCN1A:NM_001202435:exon8:c.T769G:p.C257G	2q24.3	.	.	0.001	D	0.999	D	0.997	D	0.000	D	1	D	2.795	M	-5.0	D	-11.72	D	0.939	4.958	25.0	0.981	0.990	D	1.105	D	0.965	D	0.554	0	5.41	1.062	1.199	1.000	1.000	15.732	Deleterious
305	2	166052866	T	G	Pathogenic	SCN1A	.	.	.	.	.	.	.	.	.	.	2	166052866	166052866	T	G	exonic	SCN1A	.	nonsynonymous SNV	SCN1A:NM_001165963:exon5:c.T680C:p.I227T,SCN1A:NM_001165964:exon5:c.T680C:p.I227T,SCN1A:NM_006920:exon5:c.T680C:p.I227T,SCN1A:NM_001202435:exon7:c.T680C:p.I227T	2q24.3	.	.	0.0	D	0.999	D	0.997	D	0.000	D	1	D	3.39	M	-5.2	D	-4.88	D	0.95	5.342	25.8	0.997	0.994	D	1.073	D	0.978	D	0.487	0	5.77	1.062	1.199	0.996	0.980	16.395	Deleterious
306	2	166052882	C	T	Pathogenic	SCN1A	.	.	.	.	.	.	.	.	.	.	2	166052882	166052882	C	T	exonic	SCN1A	.	synonymous SNV	SCN1A:NM_001165963:exon5:c.C664A:p.R222R,SCN1A:NM_001165964:exon5:c.C664A:p.R222R,SCN1A:NM_006920:exon5:c.C664A:p.R222R,SCN1A:NM_001202435:exon7:c.C664A:p.R222R	2q24.3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
307	2	166054637	G	A	Pathogenic	SCN1A	.	.	.	.	.	.	.	.	.	.	2	166054637	166054637	G	A	splicing	SCN1A	NM_001165964:exon4:c.602+1C>T,NM_006920:exon4:c.602+1C>T,NM_001165963:exon4:c.602+1C>T,NM_001202435:exon6:c.602+1C>T	.	.	2q24.3	.	rs794726827	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	6.104	28.3	0.995	0.985	D	.	.	.	.	0.061	0	5.24	0.871	0.852	0.995	1.000	19.174	Deleterious (FATHMM)
308	2	166058616	C	A	Pathogenic	SCN1A	.	.	.	.	.	.	.	.	.	.	2	166058616	166058616	C	A	exonic	SCN1A	.	nonsynonymous SNV	SCN1A:NM_001165963:exon2:c.C337T:p.P113S,SCN1A:NM_001165964:exon2:c.C337T:p.P113S,SCN1A:NM_006920:exon2:c.C337T:p.P113S,SCN1A:NM_001202435:exon4:c.C337T:p.P113S	2q24.3	.	.	0.034	D	0.962	D	0.979	D	0.003	N	1.000	D	3.215	M	-4.03	D	-6.12	D	0.809	4.032	23.7	0.999	0.952	D	1.090	D	0.949	D	0.554	0	4.57	0.917	0.902	1.000	1.000	17.891	Deleterious
309	2	166058651	G	A	Pathogenic	SCN1A	.	.	.	.	.	.	.	.	.	.	2	166058651	166058651	G	A	exonic	SCN1A	.	nonsynonymous SNV	SCN1A:NM_001165963:exon2:c.G302T:p.R101L,SCN1A:NM_001165964:exon2:c.G302T:p.R101L,SCN1A:NM_006920:exon2:c.G302T:p.R101L,SCN1A:NM_001202435:exon4:c.G302T:p.R101L	2q24.3	.	.	0.0	D	0.942	P	0.742	P	0.001	D	1	D	3.94	H	-4.78	D	-6.24	D	0.936	5.849	27.3	0.998	0.984	D	1.095	D	0.969	D	0.554	0	4.43	0.871	0.807	1.000	1.000	17.591	Deleterious
310	2	166058652	C	T	Pathogenic	SCN1A	.	.	.	.	.	.	.	.	.	.	2	166058652	166058652	C	T	exonic	SCN1A	.	synonymous SNV	SCN1A:NM_001165963:exon2:c.C301A:p.R101R,SCN1A:NM_001165964:exon2:c.C301A:p.R101R,SCN1A:NM_006920:exon2:c.C301A:p.R101R,SCN1A:NM_001202435:exon4:c.C301A:p.R101R	2q24.3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
311	2	166058684	T	C	Pathogenic/Likely pathogenic, not provided	SCN1A	.	.	.	.	.	.	.	.	.	.	2	166058684	166058684	T	C	exonic	SCN1A	.	nonsynonymous SNV	SCN1A:NM_001165963:exon2:c.T269G:p.F90C,SCN1A:NM_001165964:exon2:c.T269G:p.F90C,SCN1A:NM_006920:exon2:c.T269G:p.F90C,SCN1A:NM_001202435:exon4:c.T269G:p.F90C	2q24.3	.	.	0.0	D	0.999	D	0.969	D	0.000	D	1.000	D	3.94	H	-4.91	D	-6.92	D	0.906	5.781	27.1	0.993	0.988	D	1.073	D	0.974	D	0.487	0	4.57	1.062	1.028	1.000	1.000	14.377	Deleterious
312	2	168990819	A	G	Pathogenic	ABCB11	.	.	.	.	.	.	.	.	.	.	2	168990819	168990819	A	G	exonic	ABCB11	.	nonsynonymous SNV	ABCB11:NM_003742:exon9:c.A890C:p.E297A	2q31.1	.	.	0.002	D	1.0	D	1.0	D	0.000	D	1	D	3.31	M	-3.14	D	-3.48	D	0.921	6.539	31	0.997	0.985	D	1.032	D	0.901	D	0.487	0	5.53	0.991	1.061	0.999	0.998	15.951	Deleterious
313	2	178538945	G	A	Pathogenic/Likely pathogenic	TTN|TTN-AS1	.	.	.	.	.	.	.	.	.	.	2	178538945	178538945	G	A	ncRNA_exonic;splicing	TTN-AS1;TTN	NM_001267550:exon353:c.98989+1C>T,NM_001256850:exon303:c.94066+1C>T,NM_133432:exon182:c.72169+1C>T,NM_003319:exon181:c.71794+1C>T,NM_133437:exon182:c.72370+1C>T,NM_133378:exon302:c.91285+1C>T	.	.	2q31.2	.	.	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	5.064	25.2	0.989	0.990	D	.	.	.	.	0.164	0	5.76	0.871	0.935	0.988	0.987	20.324	Deleterious (FATHMM)
314	2	178542263	G	C	Pathogenic/Likely pathogenic	TTN|TTN-AS1	.	.	.	.	.	.	.	.	.	.	2	178542263	178542263	G	C	ncRNA_exonic;splicing	TTN-AS1;TTN	NM_001267550:exon349:c.97492+1C>G,NM_001256850:exon299:c.92569+1C>G,NM_133432:exon178:c.70672+1C>G,NM_003319:exon177:c.70297+1C>G,NM_133437:exon178:c.70873+1C>G,NM_133378:exon298:c.89788+1C>G	.	.	2q31.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.
315	2	178546102	T	C	Pathogenic	TTN|TTN-AS1	.	.	.	.	.	.	.	.	.	.	2	178546102	178546102	T	C	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon171:c.T67939G:p.C22647G,TTN:NM_133432:exon172:c.T68314G:p.C22772G,TTN:NM_133437:exon172:c.T68515G:p.C22839G,TTN:NM_133378:exon292:c.T87430G:p.C29144G,TTN:NM_001256850:exon293:c.T90211G:p.C30071G,TTN:NM_001267550:exon343:c.T95134G:p.C31712G	2q31.2	.	.	0.382	T	0.959	D	0.721	P	.	.	1.000	D	1.1	L	0.63	T	-7.15	D	0.505	2.009	16.27	0.950	0.966	D	-0.803	T	0.175	T	0.563	0	5.82	1.062	1.199	1.000	1.000	16.19	Tolerated
316	2	178549309	C	T	Pathogenic/Likely pathogenic	TTN|TTN-AS1	.	.	.	.	.	.	.	.	.	.	2	178549309	178549309	C	T	exonic	TTN	.	synonymous SNV	TTN:NM_003319:exon167:c.C65122A:p.R21708R,TTN:NM_133432:exon168:c.C65497A:p.R21833R,TTN:NM_133437:exon168:c.C65698A:p.R21900R,TTN:NM_133378:exon288:c.C84613A:p.R28205R,TTN:NM_001256850:exon289:c.C87394A:p.R29132R,TTN:NM_001267550:exon339:c.C92317A:p.R30773R	2q31.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
317	2	178559309	T	A	Pathogenic/Likely pathogenic	TTN|TTN-AS1	.	.	.	.	.	.	.	.	.	.	2	178559309	178559309	T	A	splicing	TTN	NM_001267550:exon326:c.86821+2A>T,NM_001256850:exon276:c.81898+2A>T,NM_133432:exon155:c.60001+2A>T,NM_003319:exon154:c.59626+2A>T,NM_133437:exon155:c.60202+2A>T,NM_133378:exon275:c.79117+2A>T	.	.	2q31.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.
318	2	178559695	G	T	Pathogenic/Likely pathogenic	TTN|TTN-AS1	.	.	.	.	.	.	.	.	.	.	2	178559695	178559695	G	T	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon154:c.G59242A:p.E19748K,TTN:NM_133432:exon155:c.G59617A:p.E19873K,TTN:NM_133437:exon155:c.G59818A:p.E19940K,TTN:NM_133378:exon275:c.G78733A:p.E26245K,TTN:NM_001256850:exon276:c.G81514A:p.E27172K,TTN:NM_001267550:exon326:c.G86437A:p.E28813K	2q31.2	.	rs868494032	0.122	T	0.999	D	0.996	D	.	.	1	D	1.075	L	-0.21	T	-2.63	D	0.622	3.791	23.4	0.959	0.982	D	-0.252	T	0.401	T	0.554	0	5.77	0.871	0.935	1.000	1.000	20.347	Tolerated
319	2	178565095	C	T	Pathogenic/Likely pathogenic	TTN|TTN-AS1	.	.	.	.	.	.	.	.	.	.	2	178565095	178565095	C	T	exonic	TTN	.	synonymous SNV	TTN:NM_003319:exon154:c.C53842A:p.R17948R,TTN:NM_133432:exon155:c.C54217A:p.R18073R,TTN:NM_133437:exon155:c.C54418A:p.R18140R,TTN:NM_133378:exon275:c.C73333A:p.R24445R,TTN:NM_001256850:exon276:c.C76114A:p.R25372R,TTN:NM_001267550:exon326:c.C81037A:p.R27013R	2q31.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
320	2	178565416	C	T	Pathogenic/Likely pathogenic	TTN|TTN-AS1	.	.	.	.	.	.	.	.	.	.	2	178565416	178565416	C	T	exonic	TTN	.	synonymous SNV	TTN:NM_003319:exon154:c.C53521A:p.R17841R,TTN:NM_133432:exon155:c.C53896A:p.R17966R,TTN:NM_133437:exon155:c.C54097A:p.R18033R,TTN:NM_133378:exon275:c.C73012A:p.R24338R,TTN:NM_001256850:exon276:c.C75793A:p.R25265R,TTN:NM_001267550:exon326:c.C80716A:p.R26906R	2q31.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
321	2	178567954	G	T	Pathogenic/Likely pathogenic	TTN|TTN-AS1	.	.	.	.	.	.	.	.	.	.	2	178567954	178567954	G	T	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon154:c.G50983A:p.E16995K,TTN:NM_133432:exon155:c.G51358A:p.E17120K,TTN:NM_133437:exon155:c.G51559A:p.E17187K,TTN:NM_133378:exon275:c.G70474A:p.E23492K,TTN:NM_001256850:exon276:c.G73255A:p.E24419K,TTN:NM_001267550:exon326:c.G78178A:p.E26060K	2q31.2	.	.	0.005	D	0.999	D	0.996	D	.	.	1	D	1.83	L	0.4	T	-2.65	D	0.649	3.239	22.8	0.950	0.978	D	-0.413	T	0.333	T	0.487	0	5.58	0.871	0.935	1.000	1.000	19.564	Tolerated
322	2	178574530	C	T	Pathogenic/Likely pathogenic	TTN|TTN-AS1	.	.	.	.	.	.	.	.	.	.	2	178574530	178574530	C	T	exonic	TTN	.	synonymous SNV	TTN:NM_003319:exon154:c.C44407A:p.R14803R,TTN:NM_133432:exon155:c.C44782A:p.R14928R,TTN:NM_133437:exon155:c.C44983A:p.R14995R,TTN:NM_133378:exon275:c.C63898A:p.R21300R,TTN:NM_001256850:exon276:c.C66679A:p.R22227R,TTN:NM_001267550:exon326:c.C71602A:p.R23868R	2q31.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
323	2	178574811	G	A	Pathogenic/Likely pathogenic	TTN|TTN-AS1	.	.	.	.	.	.	.	.	.	.	2	178574811	178574811	G	A	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon154:c.G44126T:p.W14709L,TTN:NM_133432:exon155:c.G44501T:p.W14834L,TTN:NM_133437:exon155:c.G44702T:p.W14901L,TTN:NM_133378:exon275:c.G63617T:p.W21206L,TTN:NM_001256850:exon276:c.G66398T:p.W22133L,TTN:NM_001267550:exon326:c.G71321T:p.W23774L	2q31.2	.	.	0.008	D	1.0	D	0.998	D	.	.	1	D	3.485	M	0.37	T	-9.37	D	0.557	2.238	17.76	0.695	0.947	D	0.127	D	0.474	T	0.554	0	5.6	0.871	0.935	0.998	0.170	19.603	Tolerated
324	2	178578066	C	T	Pathogenic/Likely pathogenic	TTN|TTN-AS1	.	.	.	.	.	.	.	.	.	.	2	178578066	178578066	C	T	exonic	TTN	.	synonymous SNV	TTN:NM_003319:exon150:c.C41254A:p.R13752R,TTN:NM_133432:exon151:c.C41629A:p.R13877R,TTN:NM_133437:exon151:c.C41830A:p.R13944R,TTN:NM_133378:exon271:c.C60745A:p.R20249R,TTN:NM_001256850:exon272:c.C63526A:p.R21176R,TTN:NM_001267550:exon322:c.C68449A:p.R22817R	2q31.2	8.3e-05	rs371678190	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
325	2	178579702	C	T	Pathogenic/Likely pathogenic	TTN|TTN-AS1	.	.	.	.	.	.	.	.	.	.	2	178579702	178579702	C	T	exonic	TTN	.	synonymous SNV	TTN:NM_003319:exon147:c.C40300A:p.R13434R,TTN:NM_133432:exon148:c.C40675A:p.R13559R,TTN:NM_133437:exon148:c.C40876A:p.R13626R,TTN:NM_133378:exon268:c.C59791A:p.R19931R,TTN:NM_001256850:exon269:c.C62572A:p.R20858R,TTN:NM_001267550:exon319:c.C67495A:p.R22499R	2q31.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
326	2	178588700	C	T	Pathogenic/Likely pathogenic	TTN|TTN-AS1	.	.	.	.	.	.	.	.	.	.	2	178588700	178588700	C	T	exonic	TTN	.	synonymous SNV	TTN:NM_003319:exon132:c.C35830A:p.R11944R,TTN:NM_133432:exon133:c.C36205A:p.R12069R,TTN:NM_133437:exon133:c.C36406A:p.R12136R,TTN:NM_133378:exon253:c.C55321A:p.R18441R,TTN:NM_001256850:exon254:c.C58102A:p.R19368R,TTN:NM_001267550:exon304:c.C63025A:p.R21009R	2q31.2	8.3e-05	rs368452607	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
327	2	178589508	T	A	Pathogenic/Likely pathogenic	TTN|TTN-AS1	.	.	.	.	.	.	.	.	.	.	2	178589508	178589508	T	A	exonic	TTN	.	synonymous SNV	TTN:NM_003319:exon132:c.T35022T:p.Y11674Y,TTN:NM_133432:exon133:c.T35397T:p.Y11799Y,TTN:NM_133437:exon133:c.T35598T:p.Y11866Y,TTN:NM_133378:exon253:c.T54513T:p.Y18171Y,TTN:NM_001256850:exon254:c.T57294T:p.Y19098Y,TTN:NM_001267550:exon304:c.T62217T:p.Y20739Y	2q31.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
328	2	178589849	C	T	Pathogenic/Likely pathogenic	TTN|TTN-AS1	.	.	.	.	.	.	.	.	.	.	2	178589849	178589849	C	T	exonic	TTN	.	synonymous SNV	TTN:NM_003319:exon132:c.C34681A:p.R11561R,TTN:NM_133432:exon133:c.C35056A:p.R11686R,TTN:NM_133437:exon133:c.C35257A:p.R11753R,TTN:NM_133378:exon253:c.C54172A:p.R18058R,TTN:NM_001256850:exon254:c.C56953A:p.R18985R,TTN:NM_001267550:exon304:c.C61876A:p.R20626R	2q31.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
329	2	178605642	G	T	Pathogenic/Likely pathogenic	TTN|TTN-AS1	.	.	.	.	.	.	.	.	.	.	2	178605642	178605642	G	T	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon107:c.G26458A:p.E8820K,TTN:NM_133432:exon108:c.G26833A:p.E8945K,TTN:NM_133437:exon108:c.G27034A:p.E9012K,TTN:NM_133378:exon228:c.G45949A:p.E15317K,TTN:NM_001256850:exon229:c.G48730A:p.E16244K,TTN:NM_001267550:exon279:c.G53653A:p.E17885K	2q31.2	.	.	0.722	T	0.081	B	0.061	B	.	.	0.541	N	-0.66	N	0.43	T	-1.73	N	0.417	3.299	22.9	0.963	0.948	D	-0.941	T	0.077	T	0.554	0	4.73	-0.064	0.852	0.872	1.000	14.921	Tolerated
330	2	188990114	G	A	Pathogenic	COL3A1	.	.	.	.	.	.	.	.	.	.	2	188990114	188990114	G	A	exonic	COL3A1	.	nonsynonymous SNV	COL3A1:NM_000090:exon9:c.G709A:p.G237R	2q32.2	.	rs587779625	0.0	D	1.0	D	1.0	D	0.000	D	1	D	3.65	H	-6.29	D	-6.63	D	0.96	6.035	28.0	0.998	0.998	D	0.995	D	0.991	D	0.554	0	5.57	0.917	0.998	0.998	0.980	19.904	Deleterious
331	2	188996179	G	A	Pathogenic	COL3A1	.	.	.	.	.	.	.	.	.	.	2	188996179	188996179	G	A	splicing	COL3A1	NM_000090:exon23:c.1662+1G>A	.	.	2q32.2	.	rs587779535	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	5.301	25.8	0.994	0.993	D	.	.	.	.	0.075	0	5.61	0.917	1.048	0.983	0.293	19.634	Deleterious (FATHMM)
332	2	199349027	C	T	Pathogenic	SATB2	.	.	.	.	.	.	.	.	.	.	2	199349027	199349027	C	T	exonic	SATB2	.	synonymous SNV	SATB2:NM_001172509:exon7:c.C847A:p.R283R,SATB2:NM_001172517:exon8:c.C847A:p.R283R,SATB2:NM_015265:exon8:c.C847A:p.R283R	2q33.1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
333	2	202530955	G	A	Pathogenic	BMPR2	.	.	.	.	.	.	.	.	.	.	2	202530955	202530955	G	A	splicing	BMPR2	NM_001204:exon8:c.1128+1G>A	.	.	2q33.2	.	rs863223420	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	5.613	26.5	0.995	0.998	D	.	.	.	.	0.295	0	5.7	0.917	0.994	0.988	0.977	18.014	Deleterious (FATHMM)
334	2	214730491	C	T	Pathogenic	BARD1	.	.	.	.	.	.	.	.	.	.	2	214730491	214730491	C	T	exonic	BARD1	.	synonymous SNV	BARD1:NM_001282549:exon4:c.C382A:p.R128R,BARD1:NM_001282548:exon5:c.C511A:p.R171R,BARD1:NM_001282545:exon6:c.C568A:p.R190R,BARD1:NM_001282543:exon9:c.C1864A:p.R622R,BARD1:NM_000465:exon10:c.C1921A:p.R641R	2q35	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
335	2	214745842	C	T	Pathogenic	BARD1	.	.	.	.	.	.	.	.	.	.	2	214745842	214745842	C	T	exonic	BARD1	.	nonsynonymous SNV	BARD1:NM_001282548:exon3:c.C280A:p.Q94K,BARD1:NM_001282545:exon4:c.C337A:p.Q113K,BARD1:NM_001282543:exon7:c.C1633A:p.Q545K,BARD1:NM_000465:exon8:c.C1690A:p.Q564K	2q35	.	.	0.143	T	0.839	P	0.298	B	0.367	N	0.938	N	2.175	M	-0.71	T	-1.48	N	0.409	1.942	15.85	0.978	0.907	D	-0.368	T	0.513	D	0.732	0	3.46	0.069	0.980	0.140	0.102	12.417	Deleterious
336	2	214752472	C	G	Pathogenic	BARD1	.	.	.	.	.	.	.	.	.	.	2	214752472	214752472	C	G	exonic	BARD1	.	synonymous SNV	BARD1:NM_001282548:exon2:c.C242C:p.S81S,BARD1:NM_001282545:exon3:c.C299C:p.S100S,BARD1:NM_001282543:exon6:c.C1595C:p.S532S,BARD1:NM_000465:exon7:c.C1652C:p.S551S	2q35	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
337	2	214780662	C	G	Pathogenic	BARD1	.	.	.	.	.	.	.	.	.	.	2	214780662	214780662	C	G	exonic	BARD1	.	synonymous SNV	BARD1:NM_001282543:exon3:c.C1155C:p.Y385Y,BARD1:NM_000465:exon4:c.C1212C:p.Y404Y	2q35	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
338	2	214781426	C	T	Pathogenic	BARD1	.	.	.	.	.	.	.	.	.	.	2	214781426	214781426	C	T	exonic	BARD1	.	synonymous SNV	BARD1:NM_001282543:exon3:c.C391A:p.R131R,BARD1:NM_000465:exon4:c.C448A:p.R150R	2q35	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
339	2	214792327	C	T	Pathogenic	BARD1	.	.	.	.	.	.	.	.	.	.	2	214792327	214792327	C	T	exonic	BARD1	.	synonymous SNV	BARD1:NM_001282543:exon2:c.C277A:p.R93R,BARD1:NM_000465:exon3:c.C334A:p.R112R,BARD1:NM_001282549:exon3:c.C334A:p.R112R	2q35	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
340	2	218661153	C	T	Pathogenic	BCS1L	.	.	.	.	.	.	.	.	.	.	2	218661153	218661153	C	T	exonic	BCS1L	.	stopgain	BCS1L:NM_001079866:exon2:c.C166T:p.R56X,BCS1L:NM_001257344:exon2:c.C166T:p.R56X,BCS1L:NM_001257342:exon3:c.C166T:p.R56X,BCS1L:NM_001257343:exon3:c.C166T:p.R56X,BCS1L:NM_004328:exon3:c.C166T:p.R56X	2q35	.	rs121908576	.	.	.	.	.	.	0.000	D	1	A	.	.	.	.	.	.	.	9.631	36	0.996	0.768	D	.	.	.	.	0.722	0	2.23	-0.662	0.020	0.878	0.997	13.337	Deleterious (FATHMM)
341	2	218814186	C	T	Pathogenic	CYP27A1	.	.	.	.	.	.	.	.	.	.	2	218814186	218814186	C	T	exonic	CYP27A1	.	nonsynonymous SNV	CYP27A1:NM_000784:exon6:c.C1183T:p.R395C	2q35	7.7e-05	rs121908096	0.001	D	1.0	D	1.0	D	0.000	D	1	D	3.805	H	-4.41	D	-7.45	D	0.972	7.874	35	0.999	0.689	D	1.092	D	0.964	D	0.732	0	5.76	0.871	0.935	0.987	0.997	14.458	Deleterious
342	2	218882368	C	A	Pathogenic	WNT10A	.	.	.	.	.	.	.	.	.	.	2	218882368	218882368	C	A	exonic	WNT10A	.	stopgain	WNT10A:NM_025216:exon2:c.C321A:p.C107X	2q35	0.0010	rs121908119	.	.	.	.	.	.	0.000	D	1	A	.	.	.	.	.	.	.	9.734	36	0.995	0.948	D	.	.	.	.	0.628	0	2.9	-0.041	0.935	0.998	1.000	10.635	Deleterious (FATHMM)
343	2	219418500	C	T	Pathogenic	DES	.	.	.	.	.	.	.	.	.	.	2	219418500	219418500	C	T	exonic	DES	.	nonsynonymous SNV	DES:NM_001927:exon1:c.C38T:p.S13F	2q35	.	rs62636495	0.0	D	0.997	D	0.995	D	0.000	D	1	D	2.485	M	-2.36	D	-3.55	D	0.963	4.909	25.0	0.995	0.980	D	0.830	D	0.829	D	0.598	0	5.12	0.871	0.870	1.000	1.000	18.536	Deleterious
344	2	219420347	G	A	Pathogenic/Likely pathogenic	DES	.	.	.	.	.	.	.	.	.	.	2	219420347	219420347	G	A	splicing	DES	NM_001927:exon3:c.735+1G>A	.	.	2q35	.	rs397516698	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	5.093	25.3	0.995	0.994	D	.	.	.	.	0.066	0	4.38	0.917	0.953	0.988	0.825	17.138	Deleterious (FATHMM)
345	2	219421532	C	T	Pathogenic/Likely pathogenic, not provided	DES	.	.	.	.	.	.	.	.	.	.	2	219421532	219421532	C	T	exonic	DES	.	nonsynonymous SNV	DES:NM_001927:exon6:c.C1216T:p.R406W	2q35	.	rs121913003	0.0	D	1.0	D	0.999	D	0.021	N	0.991	A	4.255	H	-3.53	D	-6.77	D	0.953	7.329	34	0.999	0.881	D	1.096	D	0.942	D	0.646	0	2.06	0.871	0.852	1.000	1.000	13.614	Deleterious
346	2	219423817	C	T	Pathogenic/Likely pathogenic	DES	.	.	.	.	.	.	.	.	.	.	2	219423817	219423817	C	T	exonic	DES	.	stopgain	DES:NM_001927:exon7:c.C1285T:p.R429X	2q35	7.7e-05	rs150974575	.	.	.	.	.	.	0.001	D	1	A	.	.	.	.	.	.	.	14.351	45	0.997	0.959	D	.	.	.	.	0.615	0	5.02	-0.058	0.935	0.999	1.000	16.936	Deleterious (FATHMM)
347	2	219425734	C	T	Pathogenic/Likely pathogenic, not provided	DES	.	.	.	.	.	.	.	.	.	.	2	219425734	219425734	C	T	exonic	DES	.	nonsynonymous SNV	DES:NM_001927:exon8:c.C1360T:p.R454W	2q35	.	rs267607490	0.0	D	1.0	D	0.995	D	0.003	N	1.000	D	3.195	M	-6.47	D	-6.27	D	0.927	8.329	35	0.999	0.952	D	0.978	D	0.990	D	0.624	0	4.46	0.871	0.935	1.000	0.997	16.935	Deleterious
348	2	223959821	T	G	Pathogenic/Likely pathogenic	MRPL44	.	.	.	.	.	.	.	.	.	.	2	223959821	223959821	T	G	exonic	MRPL44	.	nonsynonymous SNV	MRPL44:NM_022915:exon2:c.T467G:p.L156R	2q36.1	0.0002	rs143697995	0.002	D	0.989	D	0.814	P	0.002	N	0.803	N	2.36	M	0.77	T	-4.62	D	0.961	4.928	25.0	0.997	0.983	D	-0.511	T	0.258	T	0.722	0	5.7	0.991	1.061	0.437	0.375	13.923	Tolerated
349	2	227695907	T	G	Pathogenic/Likely pathogenic	SLC19A3	.	.	.	.	.	.	.	.	.	.	2	227695907	227695907	T	G	exonic	SLC19A3	.	nonsynonymous SNV	SLC19A3:NM_025243:exon4:c.T1154C:p.L385P	2q36.3	.	rs563607795	0.001	D	1.0	D	0.992	D	0.000	D	1	D	2.885	M	-2.5	D	-6.21	D	0.89	7.026	33	0.999	0.990	D	0.866	D	0.833	D	0.638	0	5.03	1.003	1.199	0.998	0.995	14.927	Deleterious
350	2	237360087	G	A	Pathogenic	COL6A3	.	.	.	.	.	.	.	.	.	.	2	237360087	237360087	G	A	splicing	COL6A3	NM_057166:exon14:c.4461+1C>T,NM_057167:exon16:c.5664+1C>T,NM_004369:exon17:c.6282+1C>T	.	.	2q37.3	.	.	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	5.079	25.3	0.994	0.979	D	.	.	.	.	0.077	0	5.22	0.871	0.935	0.766	0.643	17.788	Deleterious (FATHMM)
351	2	237361176	A	C	Pathogenic	COL6A3	.	.	.	.	.	.	.	.	.	.	2	237361176	237361176	A	C	splicing	COL6A3	NM_057166:exon13:c.4336-2T>G,NM_057167:exon15:c.5539-2T>G,NM_004369:exon16:c.6157-2T>G	.	.	2q37.3	.	.	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	3.541	23.1	0.989	0.996	D	.	.	.	.	0.075	0	5.22	0.991	1.061	0.961	0.059	15.135	Deleterious (FATHMM)
352	2	240775863	C	T	Pathogenic/Likely pathogenic	KIF1A	.	.	.	.	.	.	.	.	.	.	2	240775863	240775863	C	T	exonic	KIF1A	.	synonymous SNV	KIF1A:NM_004321:exon10:c.C946A:p.R316R,KIF1A:NM_001244008:exon11:c.C946A:p.R316R	2q37.3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
353	2	240788118	C	T	Pathogenic	KIF1A	.	.	.	.	.	.	.	.	.	.	2	240788118	240788118	C	T	exonic	KIF1A	.	nonsynonymous SNV	KIF1A:NM_004321:exon3:c.C296A:p.T99K,KIF1A:NM_001244008:exon4:c.C296A:p.T99K	2q37.3	.	.	0.0	D	1.0	D	0.999	D	0.000	U	1	D	4.96	H	-1.61	D	-5.12	D	0.941	6.858	33	0.994	0.949	D	1.074	D	0.868	D	0.672	0	4.79	0.917	0.953	0.862	0.989	17.829	Deleterious
354	2	240797715	G	A	Pathogenic/Likely pathogenic	KIF1A	.	.	.	.	.	.	.	.	.	.	2	240797715	240797715	G	A	exonic	KIF1A	.	nonsynonymous SNV	KIF1A:NM_004321:exon1:c.G38T:p.R13L,KIF1A:NM_001244008:exon2:c.G38T:p.R13L	2q37.3	.	.	0.0	D	1.0	D	0.999	D	0.000	U	1	D	4.775	H	-3.51	D	-5.93	D	0.877	7.776	35	0.999	0.989	D	1.093	D	0.959	D	0.646	0	4.78	0.871	0.892	0.998	1.000	17.769	Deleterious
355	3	8733956	G	A	Pathogenic	CAV3|SSUH2	.	.	.	.	.	.	.	.	.	.	3	8733956	8733956	G	A	exonic	CAV3	.	nonsynonymous SNV	CAV3:NM_001234:exon1:c.G80A:p.R27Q,CAV3:NM_033337:exon1:c.G80A:p.R27Q	3p25.3	.	rs116840778	0.0	D	1.0	D	1.0	D	0.000	D	1.000	D	3.37	M	-4.27	D	-3.72	D	0.912	7.372	34	1.000	0.951	D	1.100	D	0.958	D	0.497	0	5.24	0.917	1.048	0.999	0.995	15.571	Deleterious
356	3	8745688	G	A	Pathogenic/Likely pathogenic, not provided	CAV3	.	.	.	.	.	.	.	.	.	.	3	8745688	8745688	G	A	exonic	CAV3	.	nonsynonymous SNV	CAV3:NM_001234:exon2:c.G277A:p.A93T,CAV3:NM_033337:exon2:c.G277A:p.A93T	3p25.3	.	rs28936686	0.001	D	1.0	D	0.999	D	0.000	D	1	D	3.32	M	-3.73	D	-3.87	D	0.977	7.102	33	0.999	0.983	D	1.090	D	0.941	D	0.428	0	4.79	0.917	0.998	0.998	0.999	16.561	Deleterious
357	3	10142041	C	T	Pathogenic	VHL	.	.	.	.	.	.	.	.	.	.	3	10142041	10142041	C	T	exonic	VHL	.	nonsynonymous SNV	VHL:NM_000551:exon1:c.C194T:p.S65L,VHL:NM_198156:exon1:c.C194T:p.S65L	3p25.3	.	rs5030826	0.188	T	0.93	P	0.213	B	0.000	N	0.935	D	2.66	M	-7.02	D	-4.27	D	0.954	6.524	31	0.999	0.982	D	1.098	D	0.976	D	0.442	0	4.67	0.868	0.782	0.927	0.992	12.339	Deleterious
358	3	10142080	A	G	Pathogenic	VHL	.	.	.	.	.	.	.	.	.	.	3	10142080	10142080	A	G	exonic	VHL	.	nonsynonymous SNV	VHL:NM_000551:exon1:c.A233G:p.N78S,VHL:NM_198156:exon1:c.A233G:p.N78S	3p25.3	.	rs5030804	0.0	D	0.994	D	0.851	P	0.000	D	0.993	D	2.715	M	-9.18	D	-3.61	D	0.478	5.787	27.1	0.998	0.978	D	0.792	D	0.998	D	0.442	0	5.43	1.058	0.996	0.988	0.993	13.502	Deleterious
359	3	10142113	T	C	Pathogenic/Likely pathogenic	VHL	.	.	.	.	.	.	.	.	.	.	3	10142113	10142113	T	C	exonic	VHL	.	nonsynonymous SNV	VHL:NM_000551:exon1:c.T266C:p.L89P,VHL:NM_198156:exon1:c.T266C:p.L89P	3p25.3	.	rs5030807	0.001	D	0.999	D	0.974	D	0.000	D	1.000	D	1.28	L	-6.9	D	-4.35	D	0.959	6.161	28.5	0.999	0.968	D	1.012	D	0.984	D	0.442	0	5.06	0.987	0.884	0.982	0.991	12.845	Deleterious
360	3	10142139	T	C	Pathogenic	VHL	.	.	.	.	.	.	.	.	.	.	3	10142139	10142139	T	C	exonic	VHL	.	nonsynonymous SNV	VHL:NM_000551:exon1:c.T292C:p.Y98H,VHL:NM_198156:exon1:c.T292C:p.Y98H	3p25.3	.	rs5030809	0.043	D	1.0	D	0.999	D	0.000	D	0.925	A	2.7	M	-8.94	D	-3.03	D	0.903	6.048	28.0	0.998	0.983	D	0.805	D	0.998	D	0.442	0	5.16	0.987	0.884	0.968	0.932	13.023	Deleterious
361	3	10149786	G	A	Pathogenic	VHL	.	.	.	.	.	.	.	.	.	.	3	10149786	10149786	G	A	splicing	VHL	NM_198156:exon2:c.341-1G>A,NM_000551:exon3:c.464-1G>A	.	.	3p25.3	.	rs5030817	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	4.204	23.9	0.993	0.906	D	.	.	.	.	0.257	0	4.58	0.917	1.048	0.983	0.954	15.277	Deleterious (FATHMM)
362	3	10149804	C	T	Pathogenic	VHL	.	.	.	.	.	.	.	.	.	.	3	10149804	10149804	C	T	exonic	VHL	.	stopgain	VHL:NM_198156:exon2:c.C358T:p.R120X,VHL:NM_000551:exon3:c.C481T:p.R161X	3p25.3	.	rs5030818	.	.	.	.	.	.	0.000	D	1	D	.	.	.	.	.	.	.	12.771	40	0.994	0.739	D	.	.	.	.	0.722	0	2.94	-0.058	0.067	0.991	0.998	11.948	Deleterious (FATHMM)
363	3	10149820	T	C	Pathogenic	VHL	.	.	.	.	.	.	.	.	.	.	3	10149820	10149820	T	C	exonic	VHL	.	nonsynonymous SNV	VHL:NM_198156:exon2:c.T374C:p.V125A,VHL:NM_000551:exon3:c.T497C:p.V166A	3p25.3	.	rs397516445	0.008	D	0.934	P	0.764	P	0.000	D	0.998	D	1.87	L	-6.95	D	-2.2	N	0.916	4.602	24.4	0.998	0.899	D	1.009	D	0.984	D	0.722	0	4.86	0.991	1.061	0.974	0.993	12.722	Deleterious
364	3	10149822	C	T	Pathogenic	VHL	.	.	.	.	.	.	.	.	.	.	3	10149822	10149822	C	T	exonic	VHL	.	nonsynonymous SNV	VHL:NM_198156:exon2:c.C376T:p.R126W,VHL:NM_000551:exon3:c.C499T:p.R167W	3p25.3	.	rs5030820	0.0	D	1.0	D	1.0	D	0.000	D	0.999	D	2.095	M	-7.05	D	-5.23	D	0.965	7.743	35	0.999	0.820	D	1.019	D	0.988	D	0.722	0	3.97	0.871	0.935	0.942	0.981	10.407	Deleterious
365	3	10149823	G	A	Pathogenic	VHL	.	.	.	.	.	.	.	.	.	.	3	10149823	10149823	G	A	exonic	VHL	.	nonsynonymous SNV	VHL:NM_198156:exon2:c.G377A:p.R126Q,VHL:NM_000551:exon3:c.G500A:p.R167Q	3p25.3	.	rs5030821	0.0	D	1.0	D	0.997	D	0.000	D	0.999	A	2.095	M	-6.98	D	-2.78	D	0.926	7.514	34	1.000	0.928	D	0.975	D	0.989	D	0.722	0	4.86	0.917	1.048	0.942	0.977	15.866	Deleterious
366	3	10149885	C	G	Pathogenic	VHL	.	.	.	.	.	.	.	.	.	.	3	10149885	10149885	C	G	exonic	VHL	.	nonsynonymous SNV	VHL:NM_198156:exon2:c.C439G:p.L147V,VHL:NM_000551:exon3:c.C562G:p.L188V	3p25.3	.	rs5030824	0.0	D	0.999	D	0.994	D	0.000	D	0.988	A	2.25	M	-7.24	D	-1.85	N	0.9	5.747	26.9	0.998	0.817	D	1.030	D	0.990	D	0.722	0	2.73	0.008	0.077	0.981	0.991	8.285	Deleterious
367	3	12584624	C	G	Pathogenic	RAF1	.	.	.	.	.	.	.	.	.	.	3	12584624	12584624	C	G	exonic	RAF1	.	synonymous SNV	RAF1:NM_002880:exon17:c.C1837C:p.L613L	3p25.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
368	3	12585745	C	T	Pathogenic	RAF1	.	.	.	.	.	.	.	.	.	.	3	12585745	12585745	C	T	exonic	RAF1	.	nonsynonymous SNV	RAF1:NM_002880:exon14:c.C1472A:p.T491K	3p25.2	.	.	0.001	D	1.0	D	0.995	D	0.000	D	1	D	-0.715	N	-1.5	D	-5.21	D	0.952	7.116	34	0.994	0.989	D	0.136	D	0.415	T	0.722	0	5.26	0.917	1.048	1.000	0.998	19.066	Tolerated
369	3	12599717	G	C	Pathogenic/Likely pathogenic	RAF1	.	.	.	.	.	.	.	.	.	.	3	12599717	12599717	G	C	exonic	RAF1	.	synonymous SNV	RAF1:NM_002880:exon10:c.G1082G:p.G361G	3p25.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
370	3	12604182	T	G	Pathogenic/Likely pathogenic	RAF1	.	.	.	.	.	.	.	.	.	.	3	12604182	12604182	T	G	exonic	RAF1	.	nonsynonymous SNV	RAF1:NM_002880:exon7:c.T788C:p.V263A	3p25.2	.	.	0.001	D	0.94	P	0.76	P	0.000	D	1	D	2.54	M	-0.96	T	-2.32	N	0.935	3.753	23.3	0.987	0.930	D	0.174	D	0.536	D	0.707	0	5.73	1.062	1.199	1.000	1.000	16.312	Deleterious
371	3	12604184	T	A	Pathogenic	RAF1	.	.	.	.	.	.	.	.	.	.	3	12604184	12604184	T	A	exonic	RAF1	.	synonymous SNV	RAF1:NM_002880:exon7:c.T786T:p.N262N	3p25.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
372	3	12604188	C	G	Pathogenic	RAF1	.	.	.	.	.	.	.	.	.	.	3	12604188	12604188	C	G	exonic	RAF1	.	synonymous SNV	RAF1:NM_002880:exon7:c.C782C:p.P261P	3p25.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
373	3	12604189	C	G	Pathogenic/Likely pathogenic	RAF1	.	.	.	.	.	.	.	.	.	.	3	12604189	12604189	C	G	exonic	RAF1	.	synonymous SNV	RAF1:NM_002880:exon7:c.C781C:p.P261P	3p25.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
374	3	12604189	C	T	Pathogenic	RAF1	.	.	.	.	.	.	.	.	.	.	3	12604189	12604189	C	T	exonic	RAF1	.	nonsynonymous SNV	RAF1:NM_002880:exon7:c.C781A:p.P261T	3p25.2	.	rs121434594	0.024	D	1.0	D	0.997	D	0.000	D	1	D	2.56	M	-0.99	T	-4.87	D	0.942	5.192	25.5	0.997	0.939	D	0.387	D	0.670	D	0.707	0	5.73	0.917	1.048	0.989	1.000	20.260	Deleterious
375	3	12604195	T	A	Pathogenic/Likely pathogenic	RAF1	.	.	.	.	.	.	.	.	.	.	3	12604195	12604195	T	A	exonic	RAF1	.	synonymous SNV	RAF1:NM_002880:exon7:c.T775T:p.S259S	3p25.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
376	3	12604200	C	T	Pathogenic	RAF1	.	.	.	.	.	.	.	.	.	.	3	12604200	12604200	C	T	exonic	RAF1	.	stopgain	RAF1:NM_002880:exon7:c.C770A:p.S257X	3p25.2	.	.	.	.	.	.	.	.	0.000	D	1	A	.	.	.	.	.	.	.	12.388	39	0.995	0.939	D	.	.	.	.	0.707	0	5.73	0.917	1.048	0.990	0.995	20.260	Deleterious (FATHMM)
377	3	12604201	T	C	Pathogenic/Likely pathogenic	RAF1	.	.	.	.	.	.	.	.	.	.	3	12604201	12604201	T	C	exonic	RAF1	.	nonsynonymous SNV	RAF1:NM_002880:exon7:c.T769G:p.S257A	3p25.2	.	.	0.002	D	0.969	D	0.694	P	0.000	D	1	D	2.56	M	-0.98	T	-1.94	N	0.675	3.932	23.5	0.993	0.933	D	0.235	D	0.557	D	0.707	0	5.73	1.062	1.199	0.994	0.998	16.312	Deleterious
378	3	12604202	G	T	Pathogenic/Likely pathogenic	RAF1	.	.	.	.	.	.	.	.	.	.	3	12604202	12604202	G	T	exonic	RAF1	.	synonymous SNV	RAF1:NM_002880:exon7:c.G768A:p.R256R	3p25.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
379	3	14141665	C	T	Pathogenic	TMEM43	.	.	.	.	.	.	.	.	.	.	3	14141665	14141665	C	T	exonic	TMEM43	.	nonsynonymous SNV	TMEM43:NM_024334:exon12:c.C1073T:p.S358L	3p25.1	.	rs63750743	0.007	D	1.0	D	0.962	D	0.000	D	1	A	1.79	L	1.28	T	-4.1	D	0.978	7.793	35	0.999	0.949	D	-0.810	T	0.211	T	0.722	0	5.71	0.871	0.888	0.952	0.981	19.852	Tolerated
380	3	15644326	G	A	Pathogenic	BTD	.	.	.	.	.	.	.	.	.	.	3	15644326	15644326	G	A	exonic	BTD	.	nonsynonymous SNV	BTD:NM_000060:exon4:c.G470A:p.R157H,BTD:NM_001281723:exon4:c.G476A:p.R159H,BTD:NM_001281725:exon4:c.G410A:p.R137H,BTD:NM_001281724:exon6:c.G476A:p.R159H	3p25.1	0.0002	rs146015592	0.041	D	0.185	B	0.056	B	0.000	D	0.999	D	2.325	M	-2.34	D	-3.64	D	0.828	3.494	23.1	0.997	0.967	D	0.101	D	0.639	D	0.706	0	5.95	0.917	1.048	0.999	1.000	20.385	Deleterious
381	3	15644367	G	A	Pathogenic	BTD	.	.	.	.	.	.	.	.	.	.	3	15644367	15644367	G	A	exonic	BTD	.	nonsynonymous SNV	BTD:NM_000060:exon4:c.G511A:p.A171T,BTD:NM_001281723:exon4:c.G517A:p.A173T,BTD:NM_001281725:exon4:c.G451A:p.A151T,BTD:NM_001281724:exon6:c.G517A:p.A173T	3p25.1	0.0004	rs13073139	0.002	D	1.0	D	1.0	D	0.000	D	1	A	3.185	M	-2.51	D	-3.7	D	0.942	6.685	32	0.999	0.996	D	0.836	D	0.868	D	0.706	0	5.95	0.917	1.048	1.000	1.000	20.385	Deleterious
382	3	15645186	G	C	Pathogenic	BTD	.	.	.	.	.	.	.	.	.	.	3	15645186	15645186	G	C	exonic	BTD	.	nonsynonymous SNV	BTD:NM_000060:exon4:c.G1330C:p.D444H,BTD:NM_001281723:exon4:c.G1336C:p.D446H,BTD:NM_001281725:exon4:c.G1270C:p.D424H,BTD:NM_001281724:exon6:c.G1336C:p.D446H	3p25.1	0.0301	rs13078881	0.003	D	1.0	D	0.987	D	0.012	N	0.992	A	2.99	M	-3.72	D	-5.48	D	0.817	2.820	21.5	0.990	0.932	D	0.464	D	0.757	D	0.706	0	3.8	0.917	0.138	0.991	0.501	12.205	Deleterious
383	3	15645224	A	C	Pathogenic	BTD	.	.	.	.	.	.	.	.	.	.	3	15645224	15645224	A	C	exonic	BTD	.	nonsynonymous SNV	BTD:NM_000060:exon4:c.A1368C:p.Q456H,BTD:NM_001281723:exon4:c.A1374C:p.Q458H,BTD:NM_001281725:exon4:c.A1308C:p.Q436H,BTD:NM_001281724:exon6:c.A1374C:p.Q458H	3p25.1	0.0010	rs80338685	0.001	D	1.0	D	0.987	D	0.000	D	1.000	A	3.055	M	-2.47	D	-4.55	D	0.987	3.362	22.9	0.989	0.804	D	0.800	D	0.813	D	0.706	0	-2.26	0.110	-0.530	0.525	0.003	13.912	Deleterious
384	3	15645451	C	T	Pathogenic	BTD	.	.	.	.	.	.	.	.	.	.	3	15645451	15645451	C	T	exonic	BTD	.	nonsynonymous SNV	BTD:NM_000060:exon4:c.C1595T:p.T532M,BTD:NM_001281723:exon4:c.C1601T:p.T534M,BTD:NM_001281725:exon4:c.C1535T:p.T512M,BTD:NM_001281724:exon6:c.C1601T:p.T534M	3p25.1	0.0002	rs104893688	0.027	D	1.0	D	0.995	D	0.000	D	1	A	2.61	M	-2.92	D	-4.11	D	0.958	6.473	30	0.999	0.954	D	0.974	D	0.868	D	0.615	0	4.71	0.871	0.071	0.993	0.262	14.286	Deleterious
385	3	25733931	A	T	Pathogenic	NGLY1	.	.	.	.	.	.	.	.	.	.	3	25733931	25733931	A	T	exonic	NGLY1	.	synonymous SNV	NGLY1:NM_001145293:exon8:c.A1147A:p.R383R,NGLY1:NM_001145294:exon8:c.A1075A:p.R359R,NGLY1:NM_001145295:exon8:c.A1201A:p.R401R,NGLY1:NM_018297:exon8:c.A1201A:p.R401R	3p24.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
386	3	30674228	C	T	Pathogenic	TGFBR2	.	.	.	.	.	.	.	.	.	.	3	30674228	30674228	C	T	exonic	TGFBR2	.	nonsynonymous SNV	TGFBR2:NM_003242:exon5:c.C1378T:p.R460C,TGFBR2:NM_001024847:exon6:c.C1453T:p.R485C	3p24.1	.	rs104893811	0.0	D	1.0	D	1.0	D	0.000	D	1	A	2.695	M	-3.29	D	-7.84	D	0.964	7.824	35	0.999	0.894	D	0.998	D	0.908	D	0.722	0	5.75	0.853	0.935	0.998	0.990	19.966	Deleterious
387	3	30688470	C	T	Pathogenic/Likely pathogenic	TGFBR2	.	.	.	.	.	.	.	.	.	.	3	30688470	30688470	C	T	exonic	TGFBR2	.	stopgain	TGFBR2:NM_003242:exon6:c.C1483T:p.R495X,TGFBR2:NM_001024847:exon7:c.C1558T:p.R520X	3p24.1	.	rs104893819	.	.	.	.	.	.	0.000	D	1	A	.	.	.	.	.	.	.	12.847	40	0.996	0.866	D	.	.	.	.	0.722	0	3.53	0.853	0.015	0.998	0.938	13.633	Deleterious (FATHMM)
388	3	30688476	C	T	Pathogenic	TGFBR2	.	.	.	.	.	.	.	.	.	.	3	30688476	30688476	C	T	exonic	TGFBR2	.	stopgain	TGFBR2:NM_003242:exon6:c.C1489T:p.R497X,TGFBR2:NM_001024847:exon7:c.C1564T:p.R522X	3p24.1	.	rs863223852	.	.	.	.	.	.	0.000	D	1	D	.	.	.	.	.	.	.	15.020	49	0.998	0.886	D	.	.	.	.	0.722	0	5.38	0.853	0.892	0.955	0.967	14.351	Deleterious (FATHMM)
389	3	30691478	G	A	Pathogenic	TGFBR2	.	.	.	.	.	.	.	.	.	.	3	30691478	30691478	G	A	exonic	TGFBR2	.	nonsynonymous SNV	TGFBR2:NM_003242:exon7:c.G1583A:p.R528H,TGFBR2:NM_001024847:exon8:c.G1658A:p.R553H	3p24.1	.	rs104893815	0.0	D	1.0	D	1.0	D	0.000	D	1	A	4.25	H	-5.65	D	-4.72	D	0.979	7.614	34	0.999	0.983	D	0.993	D	0.990	D	0.731	0	5.91	0.897	1.048	0.995	0.887	20.286	Deleterious
390	3	32159096	C	T	Pathogenic/Likely pathogenic	GPD1L	.	.	.	.	.	.	.	.	.	.	3	32159096	32159096	C	T	exonic	GPD1L	.	nonsynonymous SNV	GPD1L:NM_015141:exon6:c.C839T:p.A280V	3p22.3	7.7e-05	rs72552291	0.832	T	0.001	B	0.004	B	0.002	N	0.988	A	0.405	N	-0.04	T	0.29	N	0.161	0.097	3.573	0.230	0.546	D	-0.965	T	0.102	T	0.615	0	3.42	0.031	0.918	0.996	0.861	9.107	Tolerated
391	3	33058220	G	A	Pathogenic	GLB1	.	.	.	.	.	.	.	.	.	.	3	33058220	33058220	G	A	exonic	GLB1	.	nonsynonymous SNV	GLB1:NM_000404:exon6:c.G602T:p.R201L,GLB1:NM_001079811:exon6:c.G512T:p.R171L,GLB1:NM_001317040:exon7:c.G746T:p.R249L	3p22.3	.	.	0.2	T	0.319	B	0.121	B	0.000	D	1	D	1.525	L	-4.74	D	-4.61	D	0.857	6.194	28.6	0.997	0.984	D	0.768	D	0.872	D	0.745	0	5.57	0.871	0.852	0.873	0.859	19.517	Deleterious
392	3	33114550	C	A	Pathogenic	CRTAP	.	.	.	.	.	.	.	.	.	.	3	33114550	33114550	C	A	splicing	CRTAP	NM_006371:exon1:c.471+2C>A	.	.	3p22.3	.	rs137853943	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	3.463	23.0	0.890	0.902	D	.	.	.	.	0.047	1	0.989	-0.379	-0.067	0.807	0.869	2.645	Deleterious (FATHMM)
393	3	36996617	A	G	Pathogenic	MLH1	.	.	.	.	.	.	.	.	.	.	3	36996617	36996617	A	G	splicing	MLH1	NM_001258271:exon2:c.117-2A>G,NM_000249:exon2:c.117-2A>G	.	.	3p22.2	.	rs267607712	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	5.333	25.8	0.995	0.994	D	.	.	.	.	0.295	0	5.55	1.062	1.187	0.997	1.000	14.967	Deleterious (FATHMM)
394	3	37050588	G	T	Pathogenic	MLH1	.	.	.	.	.	.	.	.	.	.	3	37050588	37050588	G	T	exonic	MLH1	.	stopgain	MLH1:NM_001258271:exon17:c.G1999T:p.E667X,MLH1:NM_001167619:exon18:c.G1483T:p.E495X,MLH1:NM_001258273:exon18:c.G1483T:p.E495X,MLH1:NM_000249:exon19:c.G2206T:p.E736X,MLH1:NM_001167617:exon19:c.G1912T:p.E638X,MLH1:NM_001167618:exon19:c.G1483T:p.E495X,MLH1:NM_001258274:exon20:c.G1483T:p.E495X	3p22.2	.	.	.	.	.	.	.	.	0.000	D	1	D	.	.	.	.	.	.	.	15.375	50	0.996	0.976	D	.	.	.	.	0.719	0	5.41	0.917	1.045	0.999	1.000	19.255	Deleterious (FATHMM)
395	3	38551022	G	A	Pathogenic	SCN5A	.	.	.	.	.	.	.	.	.	.	3	38551022	38551022	G	A	exonic	SCN5A	.	stopgain	SCN5A:NM_001099405:exon27:c.G5296T:p.E1766X,SCN5A:NM_001160161:exon27:c.G5188T:p.E1730X,SCN5A:NM_000335:exon28:c.G5347T:p.E1783X,SCN5A:NM_001099404:exon28:c.G5350T:p.E1784X,SCN5A:NM_001160160:exon28:c.G5251T:p.E1751X,SCN5A:NM_198056:exon28:c.G5350T:p.E1784X	3p22.2	.	.	.	.	.	.	.	.	0.000	D	1	D	.	.	.	.	.	.	.	14.560	46	0.997	0.981	D	.	.	.	.	0.638	0	4.82	0.871	0.852	0.993	0.974	18.087	Deleterious (FATHMM)
396	3	38551243	C	T	Pathogenic/Likely pathogenic, not provided	SCN5A	.	.	.	.	.	.	.	.	.	.	3	38551243	38551243	C	T	exonic	SCN5A	.	stopgain	SCN5A:NM_001099405:exon27:c.C5075A:p.S1692X,SCN5A:NM_001160161:exon27:c.C4967A:p.S1656X,SCN5A:NM_000335:exon28:c.C5126A:p.S1709X,SCN5A:NM_001099404:exon28:c.C5129A:p.S1710X,SCN5A:NM_001160160:exon28:c.C5030A:p.S1677X,SCN5A:NM_198056:exon28:c.C5129A:p.S1710X	3p22.2	.	.	.	.	.	.	.	.	0.000	D	1	D	.	.	.	.	.	.	.	14.443	46	0.996	0.984	D	.	.	.	.	0.693	0	4.68	0.917	0.953	0.992	0.551	17.791	Deleterious (FATHMM)
397	3	38551441	G	A	Pathogenic	SCN5A	.	.	.	.	.	.	.	.	.	.	3	38551441	38551441	G	A	exonic	SCN5A	.	nonsynonymous SNV	SCN5A:NM_001099405:exon27:c.G4877T:p.R1626L,SCN5A:NM_001160161:exon27:c.G4769T:p.R1590L,SCN5A:NM_000335:exon28:c.G4928T:p.R1643L,SCN5A:NM_001099404:exon28:c.G4931T:p.R1644L,SCN5A:NM_001160160:exon28:c.G4832T:p.R1611L,SCN5A:NM_198056:exon28:c.G4931T:p.R1644L	3p22.2	.	rs28937316	0.0	D	1.0	D	0.997	D	0.000	D	1.000	D	4.445	H	-5.18	D	-6.18	D	0.955	7.155	34	0.998	0.979	D	1.005	D	0.984	D	0.706	0	4.54	0.871	0.852	0.995	0.999	17.490	Deleterious
398	3	38551505	C	T	Pathogenic	SCN5A	.	.	.	.	.	.	.	.	.	.	3	38551505	38551505	C	T	exonic	SCN5A	.	synonymous SNV	SCN5A:NM_001099405:exon27:c.C4813A:p.R1605R,SCN5A:NM_001160161:exon27:c.C4705A:p.R1569R,SCN5A:NM_000335:exon28:c.C4864A:p.R1622R,SCN5A:NM_001099404:exon28:c.C4867A:p.R1623R,SCN5A:NM_001160160:exon28:c.C4768A:p.R1590R,SCN5A:NM_198056:exon28:c.C4867A:p.R1623R	3p22.2	7.7e-05	rs137854613	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
399	3	38579372	C	T	Pathogenic/Likely pathogenic	SCN5A	.	.	.	.	.	.	.	.	.	.	3	38579372	38579372	C	T	exonic	SCN5A	.	nonsynonymous SNV	SCN5A:NM_000335:exon18:c.C3349A:p.Q1117K,SCN5A:NM_001099404:exon18:c.C3352A:p.Q1118K,SCN5A:NM_001099405:exon18:c.C3352A:p.Q1118K,SCN5A:NM_001160160:exon18:c.C3349A:p.Q1117K,SCN5A:NM_198056:exon18:c.C3352A:p.Q1118K	3p22.2	.	.	0.622	T	0.019	B	0.025	B	0.593	N	1.000	N	1.185	L	-1.65	D	-0.02	N	0.595	-0.393	0.403	0.759	0.652	D	-0.805	T	0.376	T	0.495	0	3.41	-0.293	0.077	0.118	0.338	10.034	Tolerated
400	3	38586038	C	T	Pathogenic/Likely pathogenic, not provided	SCN5A	.	.	.	.	.	.	.	.	.	.	3	38586038	38586038	C	T	exonic	SCN5A	.	synonymous SNV	SCN5A:NM_000335:exon16:c.C2440A:p.R814R,SCN5A:NM_001099404:exon16:c.C2440A:p.R814R,SCN5A:NM_001099405:exon16:c.C2440A:p.R814R,SCN5A:NM_001160160:exon16:c.C2440A:p.R814R,SCN5A:NM_001160161:exon16:c.C2440A:p.R814R,SCN5A:NM_198056:exon16:c.C2440A:p.R814R	3p22.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
401	3	38597737	G	A	Pathogenic/Likely pathogenic, not provided	SCN5A	.	.	.	.	.	.	.	.	.	.	3	38597737	38597737	G	A	exonic	SCN5A	.	stopgain	SCN5A:NM_000335:exon14:c.G2254T:p.G752X,SCN5A:NM_001099404:exon14:c.G2254T:p.G752X,SCN5A:NM_001099405:exon14:c.G2254T:p.G752X,SCN5A:NM_001160160:exon14:c.G2254T:p.G752X,SCN5A:NM_001160161:exon14:c.G2254T:p.G752X,SCN5A:NM_198056:exon14:c.G2254T:p.G752X	3p22.2	.	.	.	.	.	.	.	.	0.000	D	1	A	.	.	.	.	.	.	.	14.536	46	0.994	0.990	D	.	.	.	.	0.706	0	4.68	0.871	0.892	0.999	1.000	17.753	Deleterious (FATHMM)
402	3	38605949	T	A	Pathogenic	SCN5A	.	.	.	.	.	.	.	.	.	.	3	38605949	38605949	T	A	splicing	SCN5A	NM_001160161:exon10:c.1338+2A>T,NM_001160160:exon10:c.1338+2A>T,NM_001099405:exon10:c.1338+2A>T,NM_001099404:exon10:c.1338+2A>T,NM_198056:exon10:c.1338+2A>T,NM_000335:exon10:c.1338+2A>T	.	.	3p22.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.
403	3	38606058	G	A	Pathogenic	SCN5A	.	.	.	.	.	.	.	.	.	.	3	38606058	38606058	G	A	exonic	SCN5A	.	nonsynonymous SNV	SCN5A:NM_000335:exon10:c.G1231T:p.V411L,SCN5A:NM_001099404:exon10:c.G1231T:p.V411L,SCN5A:NM_001099405:exon10:c.G1231T:p.V411L,SCN5A:NM_001160160:exon10:c.G1231T:p.V411L,SCN5A:NM_001160161:exon10:c.G1231T:p.V411L,SCN5A:NM_198056:exon10:c.G1231T:p.V411L	3p22.2	.	.	0.0	D	0.999	D	0.998	D	0.000	D	1.000	D	3.005	M	-5.29	D	-2.94	D	0.949	7.371	34	0.998	0.989	D	1.081	D	0.980	D	0.706	0	5.54	0.871	0.935	0.993	0.994	19.679	Deleterious
404	3	38613781	G	A	Pathogenic	SCN5A	.	.	.	.	.	.	.	.	.	.	3	38613781	38613781	G	A	exonic	SCN5A	.	nonsynonymous SNV	SCN5A:NM_000335:exon6:c.G665T:p.R222L,SCN5A:NM_198056:exon6:c.G665T:p.R222L	3p22.2	.	.	0.0	D	1.0	D	0.999	D	0.000	D	1	D	4.605	H	-5.09	D	-6.83	D	0.976	2.664	20.6	0.999	0.986	D	0.996	D	0.985	D	0.554	0	4.3	0.871	0.852	1.000	1.000	17.040	Deleterious
405	3	38630392	G	A	Pathogenic	SCN5A	.	.	.	.	.	.	.	.	.	.	3	38630392	38630392	G	A	exonic	SCN5A	.	nonsynonymous SNV	SCN5A:NM_000335:exon3:c.G311T:p.R104L,SCN5A:NM_001099404:exon3:c.G311T:p.R104L,SCN5A:NM_001099405:exon3:c.G311T:p.R104L,SCN5A:NM_001160160:exon3:c.G311T:p.R104L,SCN5A:NM_001160161:exon3:c.G311T:p.R104L,SCN5A:NM_198056:exon3:c.G311T:p.R104L	3p22.2	.	.	0.0	D	1.0	D	0.999	D	0.000	D	1.000	D	3.475	M	-4.51	D	-6.65	D	0.954	8.067	35	0.999	0.983	D	1.092	D	0.969	D	0.644	0	5.11	0.871	0.935	0.998	1.000	18.721	Deleterious
406	3	46859511	A	G	Pathogenic	MYL3	.	.	.	.	.	.	.	.	.	.	3	46859511	46859511	A	G	exonic	MYL3	.	nonsynonymous SNV	MYL3:NM_000258:exon4:c.A445C:p.M149L	3p21.31	.	.	0.042	D	0.043	B	0.033	B	0.000	D	1	D	0.93	L	-1.26	T	-2.72	D	0.825	2.680	20.7	0.975	0.931	D	-0.681	T	0.275	T	0.743	0	4.26	0.991	0.964	0.998	0.996	11.65	Tolerated
407	3	46860702	G	A	Pathogenic/Likely pathogenic, not provided	MYL3	.	.	.	.	.	.	.	.	.	.	3	46860702	46860702	G	A	exonic	MYL3	.	nonsynonymous SNV	MYL3:NM_000258:exon3:c.G281T:p.R94L	3p21.31	.	.	0.03	D	0.055	B	0.044	B	0.006	N	0.939	D	1.375	L	-1.27	T	-4.16	D	0.425	5.557	26.4	0.997	0.920	D	-0.483	T	0.302	T	0.526	0	4.36	0.871	0.935	0.992	0.993	8.377	Tolerated
408	3	46860813	C	G	Pathogenic	MYL3	.	.	.	.	.	.	.	.	.	.	3	46860813	46860813	C	G	exonic	MYL3	.	synonymous SNV	MYL3:NM_000258:exon3:c.C170C:p.A57A	3p21.31	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
409	3	48565636	C	T	Pathogenic	COL7A1	.	.	.	.	.	.	.	.	.	.	3	48565636	48565636	C	T	exonic	COL7A1	.	synonymous SNV	COL7A1:NM_000094:exon114:c.C8440A:p.R2814R	3p21.31	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
410	3	81648854	T	C	Pathogenic/Likely pathogenic	GBE1	.	.	.	.	.	.	.	.	.	.	3	81648854	81648854	T	C	splicing	GBE1	NM_000158:exon5:c.691+2A>G	.	.	3p12.2	.	.	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	4.595	24.4	0.994	0.991	D	.	.	.	.	0.263	0	6.06	1.062	1.199	1.000	1.000	16.609	Deleterious (FATHMM)
411	3	100748182	C	T	Pathogenic	TFG	.	.	.	.	.	.	.	.	.	.	3	100748182	100748182	C	T	exonic	TFG	.	nonsynonymous SNV	TFG:NM_001007565:exon8:c.C854T:p.P285L,TFG:NM_001195478:exon8:c.C854T:p.P285L,TFG:NM_001195479:exon8:c.C842T:p.P281L,TFG:NM_006070:exon8:c.C854T:p.P285L	3q12.2	.	rs207482230	0.004	D	0.131	B	0.059	B	0.001	D	1.000	D	0	N	0.63	T	-2.13	N	0.765	2.550	19.79	0.999	0.931	D	-1.041	T	0.092	T	0.707	0	6.16	0.871	0.931	1.000	1.000	17.045	Tolerated
412	3	121781772	C	T	Pathogenic	IQCB1	.	.	.	.	.	.	.	.	.	.	3	121781772	121781772	C	T	exonic	IQCB1	.	synonymous SNV	IQCB1:NM_001023571:exon10:c.C982A:p.R328R,IQCB1:NM_001023570:exon13:c.C1381A:p.R461R	3q13.33	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
413	3	123352464	C	T	Pathogenic	ADCY5	.	.	.	.	.	.	.	.	.	.	3	123352464	123352464	C	T	exonic	ADCY5	.	synonymous SNV	ADCY5:NM_001199642:exon2:c.C202A:p.R68R,ADCY5:NM_183357:exon2:c.C1252A:p.R418R	3q21.1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
414	3	136301087	C	A	Pathogenic	PCCB	.	.	.	.	.	.	.	.	.	.	3	136301087	136301087	C	A	exonic	PCCB	.	stopgain	PCCB:NM_000532:exon9:c.C942A:p.Y314X,PCCB:NM_001178014:exon10:c.C1002A:p.Y334X	3q22.3	.	rs572246667	.	.	.	.	.	.	0.000	D	1	A	.	.	.	.	.	.	.	11.688	38	0.997	0.805	D	.	.	.	.	0.732	0	0.728	-0.501	0.071	0.992	0.993	8.215	Deleterious (FATHMM)
415	3	150941647	C	A	Pathogenic/Likely pathogenic	CLRN1	.	.	.	.	.	.	.	.	.	.	3	150941647	150941647	C	A	exonic	CLRN1	.	nonsynonymous SNV	CLRN1:NM_001195794:exon2:c.C368T:p.A123V,CLRN1:NM_052995:exon2:c.C140T:p.A47V,CLRN1:NM_174878:exon2:c.C368T:p.A123V	3q25.1	.	.	0.631	T	1.0	D	0.997	D	0.000	D	1	D	1.67	L	-1.76	D	-2.08	N	0.847	6.586	31	0.998	0.982	D	0.152	D	0.656	D	0.487	0	5.1	0.917	0.953	1.000	1.000	18.873	Deleterious
416	3	181712840	C	G	Pathogenic	SOX2|SOX2-OT	.	.	.	.	.	.	.	.	.	.	3	181712840	181712840	C	G	exonic	SOX2	.	stopgain	SOX2:NM_003106:exon1:c.C480G:p.Y160X	3q26.33	.	.	.	.	.	.	.	.	0.000	D	1	D	.	.	.	.	.	.	.	11.705	38	0.996	0.872	D	.	.	.	.	0.598	0	4.39	0.871	0.887	1.000	1.000	9.551	Deleterious (FATHMM)
417	3	183041720	C	T	Pathogenic	MCCC1	.	.	.	.	.	.	.	.	.	.	3	183041720	183041720	C	T	exonic	MCCC1	.	nonsynonymous SNV	MCCC1:NM_001293273:exon9:c.C763A:p.Q255K,MCCC1:NM_020166:exon11:c.C1114A:p.Q372K	3q27.1	.	.	0.022	D	0.967	D	0.782	P	0.000	D	1	D	3.31	M	-4.44	D	-3.96	D	0.802	6.005	27.9	0.996	0.997	D	1.092	D	0.951	D	0.732	0	5.45	0.917	1.048	1.000	1.000	19.270	Deleterious
418	3	183045522	T	G	Pathogenic/Likely pathogenic	MCCC1	.	.	.	.	.	.	.	.	.	.	3	183045522	183045522	T	G	exonic	MCCC1	.	nonsynonymous SNV	MCCC1:NM_001293273:exon8:c.T623C:p.M208T,MCCC1:NM_020166:exon10:c.T974C:p.M325T	3q27.1	.	.	0.006	D	1.0	D	0.999	D	0.000	D	1	D	3.26	M	-4.2	D	-5.01	D	0.935	5.833	27.2	0.992	0.970	D	1.097	D	0.949	D	0.757	0	5.63	1.062	1.199	1.000	1.000	15.851	Deleterious
419	3	183057343	C	T	Pathogenic	MCCC1	.	.	.	.	.	.	.	.	.	.	3	183057343	183057343	C	T	exonic	MCCC1	.	synonymous SNV	MCCC1:NM_001293273:exon6:c.C490A:p.R164R,MCCC1:NM_020166:exon8:c.C841A:p.R281R	3q27.1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
420	3	183092545	G	A	Pathogenic	MCCC1	.	.	.	.	.	.	.	.	.	.	3	183092545	183092545	G	A	exonic	MCCC1	.	nonsynonymous SNV	MCCC1:NM_020166:exon3:c.G137T:p.G46V	3q27.1	.	.	0.148	T	0.017	B	0.004	B	0.127	N	1	D	0	N	-2.84	D	-0.3	N	0.727	3.049	22.4	0.984	0.974	D	-0.918	T	0.576	D	0.707	0	5.85	0.871	0.046	0.994	0.908	18.929	Deleterious
421	3	184136687	A	G	Pathogenic	EIF2B5	.	.	.	.	.	.	.	.	.	.	3	184136687	184136687	A	G	exonic	EIF2B5	.	nonsynonymous SNV	EIF2B5:NM_003907:exon2:c.A271G:p.T91A	3q27.1	.	rs28939717	0.249	T	0.997	D	0.985	D	0.000	D	1	A	0.86	L	-3.29	D	-1.05	N	0.901	2.434	19.04	0.995	0.991	D	0.957	D	0.866	D	0.660	0	5.7	1.062	1.140	1.000	1.000	15.961	Deleterious
422	3	184137637	G	A	Pathogenic	EIF2B5	.	.	.	.	.	.	.	.	.	.	3	184137637	184137637	G	A	exonic	EIF2B5	.	nonsynonymous SNV	EIF2B5:NM_003907:exon3:c.G338A:p.R113H	3q27.1	0.0005	rs113994049	0.166	T	0.002	B	0.003	B	0.000	N	0.992	A	1.52	L	-4.65	D	-1.8	N	0.667	3.278	22.8	0.989	0.850	D	0.441	D	0.815	D	0.722	0	1.51	-0.540	0.154	0.984	0.992	8.328	Deleterious
423	3	189864392	A	G	Pathogenic	TP63	.	.	.	.	.	.	.	.	.	.	3	189864392	189864392	A	G	exonic	TP63	.	nonsynonymous SNV	TP63:NM_001114980:exon3:c.A458G:p.H153R,TP63:NM_001114981:exon3:c.A458G:p.H153R,TP63:NM_001114982:exon3:c.A458G:p.H153R,TP63:NM_001114978:exon5:c.A740G:p.H247R,TP63:NM_001114979:exon5:c.A740G:p.H247R,TP63:NM_003722:exon5:c.A740G:p.H247R	3q28	.	rs864621968	0.001	D	0.999	D	0.977	D	0.000	D	1	D	3.165	M	-7.16	D	-7.84	D	0.986	5.562	26.4	0.998	0.989	D	0.894	D	0.996	D	0.693	0	5.85	1.062	1.199	0.999	0.998	15.423	Deleterious
424	3	193638064	A	G	Pathogenic	OPA1	.	.	.	.	.	.	.	.	.	.	3	193638064	193638064	A	G	exonic	OPA1	.	nonsynonymous SNV	OPA1:NM_130831:exon8:c.A875G:p.K292R,OPA1:NM_015560:exon9:c.A983G:p.K328R,OPA1:NM_130832:exon9:c.A929G:p.K310R,OPA1:NM_130833:exon9:c.A986G:p.K329R,OPA1:NM_130834:exon10:c.A1037G:p.K346R,OPA1:NM_130835:exon10:c.A1040G:p.K347R,OPA1:NM_130836:exon10:c.A1094G:p.K365R,OPA1:NM_130837:exon11:c.A1148G:p.K383R	3q29	.	rs398124303	0.023	D	0.999	D	0.996	D	0.000	D	1	D	1.875	L	-4.19	D	-2.53	D	0.783	6.265	29.0	0.999	0.991	D	0.997	D	0.913	D	0.707	0	5.5	1.062	1.028	0.896	0.745	14.783	Deleterious
425	3	193642763	A	G	Pathogenic	OPA1	.	.	.	.	.	.	.	.	.	.	3	193642763	193642763	A	G	splicing	OPA1	NM_015560:exon10:c.985-2A>G,NM_130837:exon12:c.1150-2A>G,NM_130836:exon11:c.1096-2A>G,NM_130835:exon11:c.1042-2A>G,NM_130834:exon11:c.1039-2A>G,NM_130833:exon10:c.988-2A>G,NM_130832:exon10:c.931-2A>G,NM_130831:exon9:c.877-2A>G	.	.	3q29	.	.	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	5.174	25.5	0.995	0.995	D	.	.	.	.	0.295	0	5.59	1.062	1.199	0.930	0.922	14.942	Deleterious (FATHMM)
426	3	193643996	G	A	Pathogenic	OPA1	.	.	.	.	.	.	.	.	.	.	3	193643996	193643996	G	A	exonic	OPA1	.	nonsynonymous SNV	OPA1:NM_130831:exon13:c.G1226A:p.R409H,OPA1:NM_015560:exon14:c.G1334A:p.R445H,OPA1:NM_130832:exon14:c.G1280A:p.R427H,OPA1:NM_130833:exon14:c.G1337A:p.R446H,OPA1:NM_130834:exon15:c.G1388A:p.R463H,OPA1:NM_130835:exon15:c.G1391A:p.R464H,OPA1:NM_130836:exon15:c.G1445A:p.R482H,OPA1:NM_130837:exon16:c.G1499A:p.R500H	3q29	.	rs80356529	0.001	D	1.0	D	0.994	D	0.000	D	1	A	2.84	M	-4.21	D	-4.7	D	0.953	7.484	34	0.999	0.993	D	1.083	D	0.946	D	0.707	0	5.8	0.917	1.048	0.998	0.992	19.051	Deleterious
427	3	193647144	C	T	Pathogenic	OPA1	.	.	.	.	.	.	.	.	.	.	3	193647144	193647144	C	T	exonic	OPA1	.	stopgain	OPA1:NM_130831:exon16:c.C1561T:p.R521X,OPA1:NM_015560:exon17:c.C1669T:p.R557X,OPA1:NM_130832:exon17:c.C1615T:p.R539X,OPA1:NM_130833:exon17:c.C1672T:p.R558X,OPA1:NM_130834:exon18:c.C1723T:p.R575X,OPA1:NM_130835:exon18:c.C1726T:p.R576X,OPA1:NM_130836:exon18:c.C1780T:p.R594X,OPA1:NM_130837:exon19:c.C1834T:p.R612X	3q29	.	rs398124299	.	.	.	.	.	.	0.000	D	1	A	.	.	.	.	.	.	.	13.393	42	0.998	0.930	D	.	.	.	.	0.707	0	5.64	0.871	0.935	0.997	0.979	14.218	Deleterious (FATHMM)
428	3	193664952	C	T	Pathogenic	OPA1	.	.	.	.	.	.	.	.	.	.	3	193664952	193664952	C	T	exonic	OPA1	.	stopgain	OPA1:NM_130831:exon24:c.C2461T:p.R821X,OPA1:NM_015560:exon25:c.C2569T:p.R857X,OPA1:NM_130832:exon25:c.C2515T:p.R839X,OPA1:NM_130833:exon25:c.C2572T:p.R858X,OPA1:NM_130834:exon26:c.C2623T:p.R875X,OPA1:NM_130835:exon26:c.C2626T:p.R876X,OPA1:NM_130836:exon26:c.C2680T:p.R894X,OPA1:NM_130837:exon27:c.C2734T:p.R912X	3q29	.	rs794727405	.	.	.	.	.	.	0.000	D	1	A	.	.	.	.	.	.	.	14.510	46	0.997	0.950	D	.	.	.	.	0.706	0	5.88	0.871	0.892	0.989	1.000	14.102	Deleterious (FATHMM)
429	4	664945	G	A	Pathogenic	PDE6B	.	.	.	.	.	.	.	.	.	.	4	664945	664945	G	A	splicing	PDE6B	NM_000283:exon18:c.2193+1G>A,NM_001145291:exon18:c.2193+1G>A,NM_001145292:exon16:c.1356+1G>A	.	.	4p16.3	.	rs727504075	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	4.609	24.4	0.995	0.995	D	.	.	.	.	0.256	0	4.27	0.917	0.902	0.971	0.861	14.555	Deleterious (FATHMM)
430	4	987858	C	T	Pathogenic	IDUA|SLC26A1	.	.	.	.	.	.	.	.	.	.	4	987858	987858	C	T	exonic	IDUA	.	stopgain	IDUA:NM_000203:exon2:c.C208T:p.Q70X	4p16.3	0.0008	rs121965020	.	.	.	.	.	.	0.000	D	1	A	.	.	.	.	.	.	.	9.383	35	0.998	0.706	D	.	.	.	.	0.609	0	3.51	0.871	0.852	0.998	0.999	12.533	Deleterious (FATHMM)
431	4	1002747	G	A	Pathogenic	IDUA	.	.	.	.	.	.	.	.	.	.	4	1002747	1002747	G	A	exonic	IDUA	.	stopgain	IDUA:NM_000203:exon9:c.G1205A:p.W402X	4p16.3	0.0004	rs121965019	.	.	.	.	.	.	0.100	N	1	A	.	.	.	.	.	.	.	11.886	38	0.992	0.705	D	.	.	.	.	0.677	0	4.86	0.897	0.986	0.554	0.725	15.450	Deleterious (FATHMM)
432	4	1801837	C	T	Pathogenic	FGFR3	.	.	.	.	.	.	.	.	.	.	4	1801837	1801837	C	T	exonic	FGFR3	.	nonsynonymous SNV	FGFR3:NM_000142:exon7:c.C742T:p.R248C,FGFR3:NM_001163213:exon7:c.C742T:p.R248C,FGFR3:NM_022965:exon7:c.C742T:p.R248C	4p16.3	.	rs121913482	0.05	D	1.0	D	0.999	D	0.000	N	1	A	4.01	H	-1.37	T	-6.69	D	0.872	6.430	29.7	0.999	0.847	D	0.938	D	0.799	D	0.696	0	3.0	-0.058	0.721	0.938	0.935	13.581	Deleterious
433	4	1804392	G	A	Pathogenic	FGFR3	.	.	.	.	.	.	.	.	.	.	4	1804392	1804392	G	A	exonic	FGFR3	.	nonsynonymous SNV	FGFR3:NM_000142:exon9:c.G1138A:p.G380R,FGFR3:NM_001163213:exon9:c.G1144A:p.G382R	4p16.3	.	rs28931614	0.085	T	0.996	D	0.819	P	0.000	D	1	D	1.7	L	-1.98	D	-1.15	N	0.851	5.222	25.6	0.997	0.972	D	0.337	D	0.638	D	0.696	0	3.82	0.917	1.045	1.000	0.995	14.958	Deleterious
434	4	1805644	C	G	Pathogenic	FGFR3	.	.	.	.	.	.	.	.	.	.	4	1805644	1805644	C	G	exonic	FGFR3	.	nonsynonymous SNV	FGFR3:NM_022965:exon10:c.C1284G:p.N428K,FGFR3:NM_000142:exon12:c.C1620G:p.N540K,FGFR3:NM_001163213:exon12:c.C1626G:p.N542K	4p16.3	.	rs28933068	0.001	D	1.0	D	1.0	D	0.000	D	1	D	-0.365	N	-2.7	D	-4.84	D	0.484	5.506	26.3	0.993	0.969	D	0.176	D	0.603	D	0.696	0	3.15	-0.032	0.050	0.983	0.999	8.170	Deleterious
435	4	1805644	C	A	Pathogenic	FGFR3	.	.	.	.	.	.	.	.	.	.	4	1805644	1805644	C	A	exonic	FGFR3	.	nonsynonymous SNV	FGFR3:NM_022965:exon10:c.C1284A:p.N428K,FGFR3:NM_000142:exon12:c.C1620A:p.N540K,FGFR3:NM_001163213:exon12:c.C1626A:p.N542K	4p16.3	.	rs28933068	0.001	D	1.0	D	1.0	D	0.000	D	1	D	-0.365	N	-2.7	D	-4.84	D	0.484	5.982	27.8	0.993	0.968	D	0.176	D	0.603	D	0.696	0	3.15	-0.032	0.050	0.983	0.999	8.170	Deleterious
436	4	6301846	C	T	Pathogenic	WFS1	.	.	.	.	.	.	.	.	.	.	4	6301846	6301846	C	T	exonic	WFS1	.	nonsynonymous SNV	WFS1:NM_001145853:exon8:c.C2051T:p.A684V,WFS1:NM_006005:exon8:c.C2051T:p.A684V	4p16.1	.	rs387906930	0.0	D	1.0	D	0.958	D	0.000	D	1	D	2.71	M	-4.16	D	-2.2	N	0.894	6.780	32	0.999	0.983	D	1.083	D	0.940	D	0.707	0	5.49	0.871	0.870	0.990	0.913	18.357	Deleterious
437	4	15516005	G	A	Pathogenic	CC2D2A	.	.	.	.	.	.	.	.	.	.	4	15516005	15516005	G	A	splicing	CC2D2A	NM_001080522:exon11:c.1017+1G>A	.	.	4p15.32	8.2e-05	rs200407856	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	3.778	23.4	0.965	0.977	D	.	.	.	.	0.099	0	6.17	0.917	1.048	0.210	0.007	17.796	Deleterious (FATHMM)
438	4	52028899	C	G	Pathogenic	SGCB	.	.	.	.	.	.	.	.	.	.	4	52028899	52028899	C	G	exonic	SGCB	.	synonymous SNV	SGCB:NM_000232:exon4:c.C452C:p.T151T	4q12	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
439	4	52029766	C	T	Pathogenic	SGCB	.	.	.	.	.	.	.	.	.	.	4	52029766	52029766	C	T	exonic	SGCB	.	nonsynonymous SNV	SGCB:NM_000232:exon3:c.C341A:p.S114Y	4q12	.	.	0.002	D	0.986	D	0.876	P	0.000	D	1	D	1.245	L	-3.77	D	-2.8	D	0.75	6.295	29.1	0.995	0.991	D	0.901	D	0.868	D	0.707	0	5.25	0.917	0.998	1.000	0.988	17.822	Deleterious
440	4	52038229	C	T	Pathogenic/Likely pathogenic	SGCB	.	.	.	.	.	.	.	.	.	.	4	52038229	52038229	C	T	exonic	SGCB	.	nonsynonymous SNV	SGCB:NM_000232:exon1:c.C31A:p.Q11K	4q12	.	.	0.091	T	0.003	B	0.004	B	0.030	U	1.000	N	0.55	N	-2.28	D	-0.66	N	0.31	1.381	12.69	0.866	0.257	N	-0.008	T	0.676	D	0.733	0	3.0	0.897	0.700	0.667	0.370	10.180	Deleterious
441	4	55346393	G	A	Pathogenic	SRD5A3	.	.	.	.	.	.	.	.	.	.	4	55346393	55346393	G	A	exonic	SRD5A3	.	stopgain	SRD5A3:NM_024592:exon1:c.G57A:p.W19X	4q12	.	rs398124401	.	.	.	.	.	.	0.000	D	1	A	.	.	.	.	.	.	.	9.125	35	0.990	0.199	N	.	.	.	.	0.442	0	3.95	0.897	0.917	0.578	0.809	13.030	Deleterious (DANN)
442	4	67754019	A	G	Pathogenic	GNRHR	.	.	.	.	.	.	.	.	.	.	4	67754019	67754019	A	G	exonic	GNRHR	.	nonsynonymous SNV	GNRHR:NM_000406:exon1:c.A317C:p.Q106P,GNRHR:NM_001012763:exon1:c.A317C:p.Q106P	4q13.2	.	.	0.002	D	0.999	D	0.996	D	0.000	D	1.000	D	2.515	M	-0.64	T	-5.49	D	0.969	3.859	23.5	0.995	0.982	D	0.183	D	0.552	D	0.554	0	6.17	0.991	1.061	0.981	0.877	14.774	Deleterious
443	4	78364055	G	A	Pathogenic	FRAS1	.	.	.	.	.	.	.	.	.	.	4	78364055	78364055	G	A	splicing	FRAS1	NM_001166133:exon22:c.2722+1G>A,NM_025074:exon22:c.2722+1G>A	.	.	4q21.21	.	rs794727365	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	5.455	26.1	0.995	0.966	D	.	.	.	.	0.099	0	5.6	0.917	0.953	0.973	0.968	19.619	Deleterious (FATHMM)
444	4	78473466	T	A	Pathogenic	FRAS1	.	.	.	.	.	.	.	.	.	.	4	78473466	78473466	T	A	exonic	FRAS1	.	stopgain	FRAS1:NM_025074:exon53:c.T7551A:p.Y2517X	4q21.21	.	rs745597204	.	.	.	.	.	.	0.000	D	1	A	.	.	.	.	.	.	.	5.639	26.6	0.941	0.288	N	.	.	.	.	0.707	0	-6.52	0.073	-0.270	0.992	0.648	17.653
445	4	127938781	T	A	Pathogenic	MFSD8	.	.	.	.	.	.	.	.	.	.	4	127938781	127938781	T	A	splicing	MFSD8	NM_152778:exon8:c.754+2A>T	.	.	4q28.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.
446	4	158706270	C	T	Pathogenic	ETFDH	.	.	.	.	.	.	.	.	.	.	4	158706270	158706270	C	T	exonic	ETFDH	.	nonsynonymous SNV	ETFDH:NM_001281738:exon9:c.C1184T:p.P395L,ETFDH:NM_001281737:exon10:c.C1226T:p.P409L,ETFDH:NM_004453:exon11:c.C1367T:p.P456L	4q32.1	.	rs398124152	0.015	D	0.999	D	0.929	D	0.000	D	1	D	2.955	M	-3.54	D	-9.08	D	0.975	6.875	33	0.999	0.986	D	1.004	D	0.922	D	0.732	0	5.89	0.871	0.892	0.713	0.244	20.236	Deleterious
447	4	169424668	C	G	Pathogenic/Likely pathogenic	NEK1	.	.	.	.	.	.	.	.	.	.	4	169424668	169424668	C	G	exonic	NEK1	.	synonymous SNV	NEK1:NM_001199399:exon28:c.C2816C:p.S939S,NEK1:NM_001199400:exon28:c.C2891C:p.S964S,NEK1:NM_012224:exon29:c.C3023C:p.S1008S,NEK1:NM_001199398:exon30:c.C2975C:p.S992S,NEK1:NM_001199397:exon31:c.C3107C:p.S1036S	4q33	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
448	4	186274190	C	T	Pathogenic/Likely pathogenic	F11	.	.	.	.	.	.	.	.	.	.	4	186274190	186274190	C	T	exonic	F11	.	stopgain	F11:NM_000128:exon5:c.C400T:p.Q134X	4q35.2	.	rs756908183	.	.	.	.	.	.	0.061	N	1	A	.	.	.	.	.	.	.	8.143	35	0.990	0.301	N	.	.	.	.	0.487	0	3.91	0.871	0.935	0.839	0.158	11.418	Deleterious (DANN)
449	4	186274193	G	T	Pathogenic	F11	.	.	.	.	.	.	.	.	.	.	4	186274193	186274193	G	T	exonic	F11	.	stopgain	F11:NM_000128:exon5:c.G403T:p.E135X	4q35.2	0.0008	rs121965063	.	.	.	.	.	.	0.000	D	1	A	.	.	.	.	.	.	.	10.803	36	0.997	0.867	D	.	.	.	.	0.487	0	4.92	0.917	1.048	0.932	0.676	9.282	Deleterious (FATHMM)
450	5	223509	C	T	Pathogenic/Likely pathogenic	SDHA	.	.	.	.	.	.	.	.	.	.	5	223509	223509	C	T	exonic	SDHA	.	stopgain	SDHA:NM_001294332:exon2:c.C91T:p.R31X,SDHA:NM_004168:exon2:c.C91T:p.R31X	5p15.33	0.0002	rs142441643	.	.	.	.	.	.	0.000	U	1	A	.	.	.	.	.	.	.	10.183	36	0.998	0.307	N	.	.	.	.	0.732	0	4.94	-0.066	-0.349	0.008	0.068	13.131	Deleterious (DANN)
451	5	1212338	G	A	Pathogenic	SLC6A19	.	.	.	.	.	.	.	.	.	.	5	1212338	1212338	G	A	exonic	SLC6A19	.	nonsynonymous SNV	SLC6A19:NM_001003841:exon4:c.G517A:p.D173N	5p15.33	0.0024	rs121434346	0.451	T	0.016	B	0.05	B	0.000	D	1.000	A	0.99	L	-0.8	T	0.02	N	0.184	4.006	23.6	0.980	0.919	D	-0.684	T	0.277	T	0.403	0	5.09	0.917	0.998	0.995	0.999	18.836	Tolerated
452	5	13830026	G	A	Pathogenic/Likely pathogenic	DNAH5	.	.	.	.	.	.	.	.	.	.	5	13830026	13830026	G	A	exonic	DNAH5	.	nonsynonymous SNV	DNAH5:NM_001369:exon37:c.G6249T:p.M2083I	5p15.2	.	.	0.001	D	1.0	D	0.998	D	0.000	D	1	D	3.14	M	0.98	T	-3.83	D	0.963	4.480	24.2	0.998	0.992	D	-0.269	T	0.354	T	0.500	0	5.76	0.871	0.935	0.995	0.997	19.976	Tolerated
453	5	36955540	C	T	Pathogenic	NIPBL	.	.	.	.	.	.	.	.	.	.	5	36955540	36955540	C	T	exonic	NIPBL	.	stopgain	NIPBL:NM_015384:exon3:c.C133T:p.R45X,NIPBL:NM_133433:exon3:c.C133T:p.R45X	5p13.2	.	rs80358367	.	.	.	.	.	.	0.000	D	1	A	.	.	.	.	.	.	.	10.452	36	0.996	0.870	D	.	.	.	.	0.732	0	3.63	0.871	0.892	0.995	1.000	14.443	Deleterious (FATHMM)
454	5	36971037	G	A	Pathogenic	NIPBL	.	.	.	.	.	.	.	.	.	.	5	36971037	36971037	G	A	splicing	NIPBL	NM_133433:exon7:c.771+1G>A,NM_015384:exon7:c.771+1G>A	.	.	5p13.2	.	rs587784048	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	5.991	27.8	0.994	0.993	D	.	.	.	.	0.295	0	5.58	0.917	1.048	0.997	1.000	19.517	Deleterious (FATHMM)
455	5	36985065	C	T	Pathogenic	NIPBL	.	.	.	.	.	.	.	.	.	.	5	36985065	36985065	C	T	exonic	NIPBL	.	stopgain	NIPBL:NM_015384:exon10:c.C1885T:p.R629X,NIPBL:NM_133433:exon10:c.C1885T:p.R629X	5p13.2	.	rs587783892	.	.	.	.	.	.	0.000	D	1	A	.	.	.	.	.	.	.	9.259	35	0.997	0.209	N	.	.	.	.	0.706	0	3.8	-0.444	-0.021	0.973	0.506	7.904	Deleterious (DANN)
456	5	36985782	C	T	Pathogenic	NIPBL	.	.	.	.	.	.	.	.	.	.	5	36985782	36985782	C	T	exonic	NIPBL	.	stopgain	NIPBL:NM_015384:exon10:c.C2602T:p.R868X,NIPBL:NM_133433:exon10:c.C2602T:p.R868X	5p13.2	.	rs398124466	.	.	.	.	.	.	0.000	D	1	A	.	.	.	.	.	.	.	10.095	36	0.996	0.875	D	.	.	.	.	0.706	0	3.6	0.067	0.031	1.000	1.000	13.180	Deleterious (FATHMM)
457	5	37051836	G	C	Pathogenic/Likely pathogenic	NIPBL	.	.	.	.	.	.	.	.	.	.	5	37051836	37051836	G	C	exonic	NIPBL	.	nonsynonymous SNV	NIPBL:NM_015384:exon41:c.G7012C:p.A2338P,NIPBL:NM_133433:exon41:c.G7012C:p.A2338P	5p13.2	.	rs587784030	0.002	D	0.98	D	0.949	D	0.000	D	1.000	D	2.92	M	-4.72	D	-4.42	D	0.933	6.231	28.8	0.998	0.969	D	1.090	D	0.956	D	0.732	0	5.69	0.917	1.048	0.999	1.000	14.635	Deleterious
458	5	37052522	C	T	Pathogenic	NIPBL	.	.	.	.	.	.	.	.	.	.	5	37052522	37052522	C	T	exonic	NIPBL	.	stopgain	NIPBL:NM_015384:exon42:c.C7219T:p.R2407X,NIPBL:NM_133433:exon42:c.C7219T:p.R2407X	5p13.2	.	rs398124471	.	.	.	.	.	.	0.000	D	1	A	.	.	.	.	.	.	.	15.641	52	0.998	0.947	D	.	.	.	.	0.732	0	6.02	0.871	0.935	0.999	1.000	20.537	Deleterious (FATHMM)
459	5	37064854	C	T	Pathogenic	NIPBL|C5orf42	.	.	.	.	.	.	.	.	.	.	5	37064854	37064854	C	T	exonic	NIPBL	.	stopgain	NIPBL:NM_133433:exon47:c.C8377T:p.R2793X	5p13.2	.	rs398124474	.	.	.	.	.	.	0.000	D	1	D	.	.	.	.	.	.	.	13.699	43	0.995	0.973	D	.	.	.	.	0.719	0	4.96	0.871	0.003	1.000	1.000	16.032	Deleterious (FATHMM)
460	5	37120306	C	T	Pathogenic	C5orf42	.	.	.	.	.	.	.	.	.	.	5	37120306	37120306	C	T	exonic	C5orf42	.	synonymous SNV	C5orf42:NM_023073:exon49:c.C9058A:p.R3020R	5p13.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
461	5	37157810	T	A	Pathogenic	C5orf42	.	.	.	.	.	.	.	.	.	.	5	37157810	37157810	T	A	exonic	C5orf42	.	synonymous SNV	C5orf42:NM_023073:exon40:c.T7817T:p.L2606L	5p13.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
462	5	37198775	C	T	Pathogenic	C5orf42	.	.	.	.	.	.	.	.	.	.	5	37198775	37198775	C	T	exonic	C5orf42	.	nonsynonymous SNV	C5orf42:NM_023073:exon20:c.C3599A:p.A1200E	5p13.2	7.7e-05	rs141153181	0.001	D	1.0	D	0.999	D	0.000	D	1.000	D	0.895	L	1.05	T	-2.94	D	0.923	6.250	28.9	0.995	0.990	D	-0.747	T	0.194	T	0.660	0	5.28	0.917	0.953	0.976	0.618	19.272	Tolerated
463	5	37224679	C	T	Pathogenic	C5orf42	.	.	.	.	.	.	.	.	.	.	5	37224679	37224679	C	T	exonic	C5orf42	.	synonymous SNV	C5orf42:NM_023073:exon13:c.C2353A:p.R785R	5p13.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
464	5	68296301	C	T	Pathogenic	PIK3R1	.	.	.	.	.	.	.	.	.	.	5	68296301	68296301	C	T	exonic	PIK3R1	.	nonsynonymous SNV	PIK3R1:NM_001242466:exon8:c.C856T:p.R286W,PIK3R1:NM_181504:exon9:c.C1135T:p.R379W,PIK3R1:NM_181524:exon9:c.C1045T:p.R349W,PIK3R1:NM_181523:exon15:c.C1945T:p.R649W	5q13.1	.	rs397515453	0.0	D	1.0	D	1.0	D	0.000	D	1	D	4.28	H	-5.7	D	-7.05	D	0.985	8.420	35	0.999	0.978	D	0.988	D	0.989	D	0.707	0	5.15	0.871	0.935	0.998	0.999	18.808	Deleterious
465	5	69433088	C	T	Pathogenic	MARVELD2	.	.	.	.	.	.	.	.	.	.	5	69433088	69433088	C	T	exonic	MARVELD2	.	stopgain	MARVELD2:NM_001244734:exon4:c.C1462T:p.R488X,MARVELD2:NM_001038603:exon5:c.C1498T:p.R500X	5q13.2	.	rs118203957	.	.	.	.	.	.	0.026	N	1	A	.	.	.	.	.	.	.	14.584	46	0.997	0.906	D	.	.	.	.	0.707	0	4.8	-0.058	0.935	0.679	0.534	15.332	Deleterious (FATHMM)
466	5	71599672	G	C	Pathogenic	MCCC2	.	.	.	.	.	.	.	.	.	.	5	71599672	71599672	G	C	exonic	MCCC2	.	nonsynonymous SNV	MCCC2:NM_022132:exon4:c.G295C:p.E99Q	5q13.2	0.0002	rs119103219	0.0	D	0.959	D	0.618	P	0.000	D	1	A	3.87	H	-5.72	D	-2.82	D	0.928	6.217	28.7	0.998	0.989	D	1.083	D	0.981	D	0.722	0	6.02	0.917	1.022	1.000	0.998	19.306	Deleterious
467	5	71604412	C	T	Pathogenic	MCCC2	.	.	.	.	.	.	.	.	.	.	5	71604412	71604412	C	T	exonic	MCCC2	.	nonsynonymous SNV	MCCC2:NM_022132:exon6:c.C568T:p.H190Y	5q13.2	.	rs773774134	0.0	D	1.0	D	0.997	D	0.000	D	1	D	3.825	H	-4.61	D	-5.73	D	0.95	6.471	29.9	0.998	0.987	D	1.083	D	0.973	D	0.706	0	5.57	0.871	0.935	0.998	0.996	18.736	Deleterious
468	5	74718804	C	T	Pathogenic	HEXB	.	.	.	.	.	.	.	.	.	.	5	74718804	74718804	C	T	exonic	HEXB	.	nonsynonymous SNV	HEXB:NM_000521:exon11:c.C1250T:p.P417L,HEXB:NM_001292004:exon11:c.C575T:p.P192L	5q13.3	0.0005	rs28942073	0.018	D	0.893	P	0.633	P	0.001	D	0.998	A	3.185	M	-2.68	D	-6.36	D	0.773	3.325	22.9	0.992	0.833	D	0.922	D	0.816	D	0.706	0	3.21	0.871	0.044	0.467	0.364	15.594	Deleterious
469	5	88751881	C	T	Pathogenic	MEF2C	.	.	.	.	.	.	.	.	.	.	5	88751881	88751881	C	T	exonic	MEF2C	.	synonymous SNV	MEF2C:NM_001193348:exon3:c.C421A:p.R141R,MEF2C:NM_001193349:exon3:c.C421A:p.R141R,MEF2C:NM_001308002:exon4:c.C565A:p.R189R,MEF2C:NM_001193350:exon5:c.C565A:p.R189R,MEF2C:NM_002397:exon5:c.C565A:p.R189R,MEF2C:NM_001131005:exon6:c.C559A:p.R187R,MEF2C:NM_001193347:exon7:c.C619A:p.R207R	5q14.3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
470	5	88823787	T	C	Pathogenic	MEF2C	.	.	.	.	.	.	.	.	.	.	5	88823787	88823787	T	C	exonic	MEF2C	.	nonsynonymous SNV	MEF2C:NM_001193348:exon1:c.T2G:p.M1R,MEF2C:NM_001193349:exon1:c.T2G:p.M1R,MEF2C:NM_001308002:exon1:c.T2G:p.M1R,MEF2C:NM_001193350:exon2:c.T2G:p.M1R,MEF2C:NM_002397:exon2:c.T2G:p.M1R,MEF2C:NM_001131005:exon3:c.T2G:p.M1R,MEF2C:NM_001193347:exon3:c.T2G:p.M1R	5q14.3	.	.	0.0	D	1.0	D	1.0	D	0.000	D	0.992	D	.	.	-1.33	T	-5.12	D	0.886	4.863	24.9	0.987	0.985	D	1.048	D	0.909	D	0.507	0	5.12	1.062	1.140	1.000	1.000	15.214	Deleterious
471	5	112754960	C	T	Pathogenic	APC	.	.	.	.	.	.	.	.	.	.	5	112754960	112754960	C	T	exonic	APC	.	stopgain	APC:NM_000038:exon2:c.C70T:p.R24X,APC:NM_001127510:exon3:c.C70T:p.R24X	5q22.2	7.7e-05	rs145945630	.	.	.	.	.	.	0.000	D	1	A	.	.	.	.	.	.	.	11.655	37	0.997	0.911	D	.	.	.	.	0.706	0	5.67	0.871	0.892	1.000	1.000	19.753	Deleterious (FATHMM)
472	5	112766410	G	T	Pathogenic/Likely pathogenic	APC	.	.	.	.	.	.	.	.	.	.	5	112766410	112766410	G	T	exonic	APC	.	stopgain	APC:NM_001127511:exon2:c.G250T:p.E84X,APC:NM_000038:exon3:c.G220T:p.E74X,APC:NM_001127510:exon4:c.G220T:p.E74X	5q22.2	.	.	.	.	.	.	.	.	0.000	D	1	A	.	.	.	.	.	.	.	11.111	37	0.997	0.998	D	.	.	.	.	0.651	0	5.65	0.917	0.902	0.992	0.997	19.716	Deleterious (FATHMM)
473	5	112780895	C	T	Pathogenic	APC	.	.	.	.	.	.	.	.	.	.	5	112780895	112780895	C	T	exonic	APC	.	stopgain	APC:NM_001127511:exon5:c.C667T:p.R223X,APC:NM_000038:exon6:c.C637T:p.R213X,APC:NM_001127510:exon7:c.C637T:p.R213X	5q22.2	.	rs587781392	.	.	.	.	.	.	0.000	D	1	A	.	.	.	.	.	.	.	11.992	38	0.998	0.979	D	.	.	.	.	0.732	0	3.74	-0.048	0.036	0.989	0.978	14.256	Deleterious (FATHMM)
474	5	112780904	G	A	Pathogenic/Likely pathogenic	APC	.	.	.	.	.	.	.	.	.	.	5	112780904	112780904	G	A	splicing	APC	NM_001127511:exon5:c.675+1G>A,NM_000038:exon6:c.645+1G>A,NM_001127510:exon7:c.645+1G>A	.	.	5q22.2	.	rs863225370	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	5.725	26.9	0.996	0.998	D	.	.	.	.	0.164	0	5.56	0.917	1.048	0.975	0.898	19.535	Deleterious (FATHMM)
475	5	112792446	C	T	Pathogenic	APC	.	.	.	.	.	.	.	.	.	.	5	112792446	112792446	C	T	exonic	APC	.	stopgain	APC:NM_000038:exon7:c.C646T:p.R216X,APC:NM_001127510:exon8:c.C646T:p.R216X	5q22.2	.	rs62619935	.	.	.	.	.	.	0.232	N	1	A	.	.	.	.	.	.	.	10.578	36	0.997	0.672	D	.	.	.	.	0.732	0	2.99	0.033	0.059	0.984	0.991	1.709	Deleterious (FATHMM)
476	5	112815507	C	T	Pathogenic	APC	.	.	.	.	.	.	.	.	.	.	5	112815507	112815507	C	T	exonic	APC	.	stopgain	APC:NM_001127511:exon7:c.C793T:p.R265X,APC:NM_000038:exon9:c.C847T:p.R283X,APC:NM_001127510:exon10:c.C847T:p.R283X	5q22.2	.	rs786201856	.	.	.	.	.	.	0.000	D	1	A	.	.	.	.	.	.	.	12.711	40	0.998	0.984	D	.	.	.	.	0.722	0	4.22	0.871	0.852	0.352	0.969	12.977	Deleterious (FATHMM)
477	5	112815564	C	T	Pathogenic, other	APC	.	.	.	.	.	.	.	.	.	.	5	112815564	112815564	C	T	exonic	APC	.	stopgain	APC:NM_001127511:exon7:c.C850T:p.R284X,APC:NM_000038:exon9:c.C904T:p.R302X,APC:NM_001127510:exon10:c.C904T:p.R302X	5q22.2	.	rs137854568	.	.	.	.	.	.	0.000	D	1	A	.	.	.	.	.	.	.	12.589	39	0.998	0.968	D	.	.	.	.	0.722	0	5.11	0.871	0.852	1.000	1.000	18.903	Deleterious (FATHMM)
478	5	112819026	C	T	Pathogenic	APC	.	.	.	.	.	.	.	.	.	.	5	112819026	112819026	C	T	exonic	APC	.	stopgain	APC:NM_001127511:exon8:c.C940T:p.R314X,APC:NM_000038:exon10:c.C994T:p.R332X,APC:NM_001127510:exon11:c.C994T:p.R332X	5q22.2	.	rs775126020	.	.	.	.	.	.	0.000	D	1	A	.	.	.	.	.	.	.	10.920	37	0.997	0.957	D	.	.	.	.	0.719	0	4.84	0.871	0.935	0.999	0.998	13.996	Deleterious (FATHMM)
479	5	112819245	C	T	Pathogenic	APC	.	.	.	.	.	.	.	.	.	.	5	112819245	112819245	C	T	exonic	APC	.	stopgain	APC:NM_001127511:exon8:c.C1159T:p.R387X,APC:NM_000038:exon10:c.C1213T:p.R405X,APC:NM_001127510:exon11:c.C1213T:p.R405X	5q22.2	.	rs587779780	.	.	.	.	.	.	0.000	D	1	A	.	.	.	.	.	.	.	11.773	38	0.997	0.960	D	.	.	.	.	0.563	0	5.94	0.871	0.935	0.999	1.000	20.419	Deleterious (FATHMM)
480	5	112819347	A	G	Pathogenic/Likely pathogenic	APC	.	.	.	.	.	.	.	.	.	.	5	112819347	112819347	A	G	intronic	APC	.	.	.	5q22.2	.	rs863225311	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	probably Tolerated (Intron)
481	5	112828889	C	T	Pathogenic	APC	.	.	.	.	.	.	.	.	.	.	5	112828889	112828889	C	T	exonic	APC	.	stopgain	APC:NM_001127511:exon12:c.C1606T:p.R536X,APC:NM_000038:exon14:c.C1660T:p.R554X,APC:NM_001127510:exon15:c.C1660T:p.R554X	5q22.2	.	rs137854573	.	.	.	.	.	.	0.000	D	1	A	.	.	.	.	.	.	.	10.660	36	0.997	0.897	D	.	.	.	.	0.732	0	1.6	0.871	0.852	1.000	1.000	16.691	Deleterious (FATHMM)
482	5	112838007	C	T	Pathogenic	APC	.	.	.	.	.	.	.	.	.	.	5	112838007	112838007	C	T	exonic	APC	.	stopgain	APC:NM_001127511:exon14:c.C2359T:p.R787X,APC:NM_000038:exon16:c.C2413T:p.R805X,APC:NM_001127510:exon17:c.C2413T:p.R805X	5q22.2	.	rs587779783	.	.	.	.	.	.	0.000	D	1	D	.	.	.	.	.	.	.	9.717	36	0.997	0.826	D	.	.	.	.	0.707	0	4.36	0.871	0.044	0.980	0.999	14.729	Deleterious (FATHMM)
483	5	112838220	C	T	Pathogenic	APC	.	.	.	.	.	.	.	.	.	.	5	112838220	112838220	C	T	exonic	APC	.	stopgain	APC:NM_001127511:exon14:c.C2572T:p.R858X,APC:NM_000038:exon16:c.C2626T:p.R876X,APC:NM_001127510:exon17:c.C2626T:p.R876X	5q22.2	.	rs121913333	.	.	.	.	.	.	0.000	D	1	D	.	.	.	.	.	.	.	10.801	36	0.998	0.951	D	.	.	.	.	0.707	0	4.09	0.871	0.935	0.892	0.999	14.864	Deleterious (FATHMM)
484	5	112838399	C	A	Pathogenic	APC	.	.	.	.	.	.	.	.	.	.	5	112838399	112838399	C	A	exonic	APC	.	stopgain	APC:NM_001127511:exon14:c.C2751A:p.Y917X,APC:NM_000038:exon16:c.C2805A:p.Y935X,APC:NM_001127510:exon17:c.C2805A:p.Y935X	5q22.2	.	rs137854575	.	.	.	.	.	.	0.003	N	1	D	.	.	.	.	.	.	.	10.828	36	0.996	0.986	D	.	.	.	.	0.707	0	4.9	0.871	0.935	0.985	0.905	13.177	Deleterious (FATHMM)
485	5	112838682	A	T	Pathogenic	APC	.	.	.	.	.	.	.	.	.	.	5	112838682	112838682	A	T	exonic	APC	.	stopgain	APC:NM_001127511:exon14:c.A3034T:p.K1012X,APC:NM_000038:exon16:c.A3088T:p.K1030X,APC:NM_001127510:exon17:c.A3088T:p.K1030X	5q22.2	.	rs587779786	.	.	.	.	.	.	0.000	D	1	D	.	.	.	.	.	.	.	12.303	39	0.996	0.991	D	.	.	.	.	0.707	0	5.76	1.062	1.199	0.990	1.000	16.068	Deleterious (FATHMM)
486	5	112839942	C	T	Pathogenic	APC	.	.	.	.	.	.	.	.	.	.	5	112839942	112839942	C	T	exonic	APC	.	stopgain	APC:NM_001127511:exon14:c.C4294T:p.R1432X,APC:NM_000038:exon16:c.C4348T:p.R1450X,APC:NM_001127510:exon17:c.C4348T:p.R1450X	5q22.2	.	rs121913332	.	.	.	.	.	.	0.153	N	1	D	.	.	.	.	.	.	.	12.165	38	0.997	0.903	D	.	.	.	.	0.707	0	4.2	-0.662	0.020	0.108	0.995	14.037	Deleterious (FATHMM)
487	5	112842303	C	T	Pathogenic	APC	.	.	.	.	.	.	.	.	.	.	5	112842303	112842303	C	T	exonic	APC	.	stopgain	APC:NM_001127511:exon14:c.C6655T:p.R2219X,APC:NM_000038:exon16:c.C6709T:p.R2237X,APC:NM_001127510:exon17:c.C6709T:p.R2237X	5q22.2	.	rs768922431	.	.	.	.	.	.	0.000	D	1	D	.	.	.	.	.	.	.	13.568	42	0.996	0.845	D	.	.	.	.	0.732	0	5.14	0.871	0.935	0.985	1.000	16.408	Deleterious (FATHMM)
488	5	126552059	G	C	Pathogenic/Likely pathogenic	ALDH7A1	.	.	.	.	.	.	.	.	.	.	5	126552059	126552059	G	C	exonic	ALDH7A1	.	synonymous SNV	ALDH7A1:NM_001202404:exon12:c.G1168G:p.E390E,ALDH7A1:NM_001182:exon14:c.G1279G:p.E427E,ALDH7A1:NM_001201377:exon14:c.G1195G:p.E399E	5q23.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
489	5	132370015	G	T	Pathogenic/Likely pathogenic, not provided	SLC22A5	.	.	.	.	.	.	.	.	.	.	5	132370015	132370015	G	T	exonic	SLC22A5	.	nonsynonymous SNV	SLC22A5:NM_001308122:exon1:c.G43T:p.G15W,SLC22A5:NM_003060:exon1:c.G43T:p.G15W	5q31.1	.	rs267607052	0.0	D	1.0	D	1.0	D	0.000	D	1	D	4.095	H	-1.86	D	-6.75	D	0.936	6.589	31	0.996	0.993	D	1.012	D	0.858	D	0.652	0	4.99	0.917	0.949	1.000	1.000	18.275	Deleterious
490	5	132370108	C	T	Pathogenic	SLC22A5	.	.	.	.	.	.	.	.	.	.	5	132370108	132370108	C	T	exonic	SLC22A5	.	nonsynonymous SNV	SLC22A5:NM_001308122:exon1:c.C136T:p.P46S,SLC22A5:NM_003060:exon1:c.C136T:p.P46S	5q31.1	0.0006	rs202088921	0.0	D	1.0	D	0.998	D	0.000	D	1	D	4.05	H	-3.23	D	-6.85	D	0.951	5.702	26.8	0.999	0.985	D	1.083	D	0.938	D	0.652	0	5.32	0.871	0.931	0.964	0.848	19.000	Deleterious
491	5	132370220	G	T	Pathogenic	SLC22A5	.	.	.	.	.	.	.	.	.	.	5	132370220	132370220	G	T	exonic	SLC22A5	.	nonsynonymous SNV	SLC22A5:NM_001308122:exon1:c.G248T:p.R83L,SLC22A5:NM_003060:exon1:c.G248T:p.R83L	5q31.1	.	rs72552726	0.0	D	1.0	D	0.995	D	0.000	D	1.000	D	2.3	M	-0.94	T	-5.78	D	0.912	6.763	32	0.998	0.945	D	0.049	D	0.618	D	0.455	0	5.46	0.917	1.027	0.976	0.996	19.300	Deleterious
492	5	132370336	G	T	Pathogenic	SLC22A5	.	.	.	.	.	.	.	.	.	.	5	132370336	132370336	G	T	exonic	SLC22A5	.	nonsynonymous SNV	SLC22A5:NM_001308122:exon1:c.G364T:p.D122Y,SLC22A5:NM_003060:exon1:c.G364T:p.D122Y	5q31.1	0.0002	rs201082652	0.001	D	1.0	D	0.987	D	0.019	N	1.000	D	2.8	M	-0.83	T	-5.87	D	0.901	5.526	26.3	0.994	0.906	D	0.501	D	0.691	D	0.658	0	5.46	0.917	1.045	0.985	0.960	14.177	Deleterious
493	5	132384281	A	G	Pathogenic/Likely pathogenic, not provided	SLC22A5	.	.	.	.	.	.	.	.	.	.	5	132384281	132384281	A	G	exonic	SLC22A5	.	nonsynonymous SNV	SLC22A5:NM_003060:exon3:c.A632G:p.Y211C,SLC22A5:NM_001308122:exon4:c.A704G:p.Y235C	5q31.1	.	rs121908888	0.0	D	1.0	D	1.0	D	0.000	D	1	A	2.705	M	-0.85	T	-8.16	D	0.991	5.933	27.6	0.998	0.992	D	0.390	D	0.620	D	0.615	0	5.58	1.062	1.199	1.000	0.992	15.748	Deleterious
494	5	132390830	C	T	Pathogenic/Likely pathogenic, not provided	SLC22A5	.	.	.	.	.	.	.	.	.	.	5	132390830	132390830	C	T	exonic	SLC22A5	.	nonsynonymous SNV	SLC22A5:NM_003060:exon7:c.C1193T:p.P398L,SLC22A5:NM_001308122:exon8:c.C1265T:p.P422L	5q31.1	0.0002	rs144547521	0.003	D	0.96	D	0.833	P	0.000	D	1	D	2.39	M	-0.8	T	-6.81	D	0.879	7.101	33	0.999	0.942	D	0.116	D	0.575	D	0.615	0	6.17	0.871	0.935	0.934	0.940	20.879	Deleterious
495	5	132390832	C	T	Pathogenic/Likely pathogenic, not provided	SLC22A5	.	.	.	.	.	.	.	.	.	.	5	132390832	132390832	C	T	exonic	SLC22A5	.	nonsynonymous SNV	SLC22A5:NM_003060:exon7:c.C1195T:p.R399W,SLC22A5:NM_001308122:exon8:c.C1267T:p.R423W	5q31.1	.	rs267607054	0.0	D	1.0	D	1.0	D	0.000	D	1	D	4.455	H	-1.82	D	-7.68	D	0.995	8.018	35	0.999	0.843	D	0.980	D	0.867	D	0.615	0	6.17	0.871	0.935	0.953	0.986	15.581	Deleterious
496	5	132589778	C	T	Pathogenic	RAD50	.	.	.	.	.	.	.	.	.	.	5	132589778	132589778	C	T	exonic	RAD50	.	stopgain	RAD50:NM_005732:exon9:c.C1393T:p.Q465X	5q31.1	.	rs587780150	.	.	.	.	.	.	0.000	D	1	A	.	.	.	.	.	.	.	12.922	40	0.997	0.947	D	.	.	.	.	0.732	0	5.51	0.871	0.935	0.971	1.000	14.089	Deleterious (FATHMM)
497	5	132594950	C	G	Pathogenic	RAD50	.	.	.	.	.	.	.	.	.	.	5	132594950	132594950	C	G	exonic	RAD50	.	stopgain	RAD50:NM_005732:exon12:c.C1875G:p.Y625X	5q31.1	.	rs149201802	.	.	.	.	.	.	0.000	D	1	A	.	.	.	.	.	.	.	10.446	36	0.997	0.893	D	.	.	.	.	0.732	0	3.6	0.021	0.125	0.997	0.998	9.551	Deleterious (FATHMM)
498	5	132595033	C	A	Pathogenic	RAD50	.	.	.	.	.	.	.	.	.	.	5	132595033	132595033	C	A	exonic	RAD50	.	stopgain	RAD50:NM_005732:exon12:c.C1958A:p.S653X	5q31.1	.	rs587781904	.	.	.	.	.	.	0.000	D	1	A	.	.	.	.	.	.	.	13.194	41	0.996	0.978	D	.	.	.	.	0.732	0	5.94	0.871	0.935	0.997	0.995	20.363	Deleterious (FATHMM)
499	5	132638158	C	T	Pathogenic	RAD50|TH2LCRR	.	.	.	.	.	.	.	.	.	.	5	132638158	132638158	C	T	exonic	RAD50	.	stopgain	RAD50:NM_005732:exon23:c.C3553T:p.R1185X	5q31.1	.	rs778555849	.	.	.	.	.	.	0.000	D	1	A	.	.	.	.	.	.	.	13.489	42	0.997	0.896	D	.	.	.	.	0.732	0	2.84	-0.058	0.935	0.996	0.998	15.833	Deleterious (FATHMM)
500	5	132638203	C	T	Pathogenic	RAD50|TH2LCRR	.	.	.	.	.	.	.	.	.	.	5	132638203	132638203	C	T	exonic	RAD50	.	stopgain	RAD50:NM_005732:exon23:c.C3598T:p.R1200X	5q31.1	.	rs750586158	.	.	.	.	.	.	0.000	D	1	A	.	.	.	.	.	.	.	14.816	48	0.998	0.939	D	.	.	.	.	0.732	0	5.04	0.871	0.935	1.000	1.000	14.442	Deleterious (FATHMM)
501	5	149010272	C	T	Pathogenic	SH3TC2	.	.	.	.	.	.	.	.	.	.	5	149010272	149010272	C	T	exonic	SH3TC2	.	synonymous SNV	SH3TC2:NM_024577:exon14:c.C3325A:p.R1109R	5q32	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
502	5	149026872	C	T	Pathogenic	SH3TC2	.	.	.	.	.	.	.	.	.	.	5	149026872	149026872	C	T	exonic	SH3TC2	.	synonymous SNV	SH3TC2:NM_024577:exon11:c.C2860A:p.R954R	5q32	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
503	5	149980428	C	T	Pathogenic	SLC26A2	.	.	.	.	.	.	.	.	.	.	5	149980428	149980428	C	T	exonic	SLC26A2	.	nonsynonymous SNV	SLC26A2:NM_000112:exon3:c.C835T:p.R279W	5q32	0.0012	rs104893915	0.0	D	1.0	D	1.0	D	0.000	D	1.000	A	3.425	M	-3.31	D	-7.43	D	0.95	6.825	32	0.999	0.878	D	1.074	D	0.924	D	0.706	0	5.12	0.871	0.892	0.984	0.996	18.611	Deleterious
504	5	149981550	T	A	Pathogenic	SLC26A2	.	.	.	.	.	.	.	.	.	.	5	149981550	149981550	T	A	exonic	SLC26A2	.	nonsynonymous SNV	SLC26A2:NM_000112:exon3:c.T1957A:p.C653S	5q32	0.0002	rs104893924	0.008	D	1.0	D	0.993	D	0.000	D	1	A	2.895	M	-2.55	D	-7.41	D	0.88	4.798	24.8	0.993	0.998	D	0.872	D	0.842	D	0.706	0	5.97	0.991	1.061	1.000	0.998	16.450	Deleterious
505	5	150125571	C	T	Pathogenic	PDGFRB	.	.	.	.	.	.	.	.	.	.	5	150125571	150125571	C	T	exonic	PDGFRB	.	nonsynonymous SNV	PDGFRB:NM_002609:exon12:c.C1681A:p.R561S	5q32	.	.	0.001	D	1.0	D	0.989	D	0.000	D	1	D	2.645	M	-3.48	D	-3.69	D	0.805	7.269	34	0.998	0.979	D	1.035	D	0.912	D	0.615	0	4.58	0.917	1.048	0.989	0.987	17.923	Deleterious
506	5	157468728	C	A	Pathogenic	NIPAL4	.	.	.	.	.	.	.	.	.	.	5	157468728	157468728	C	A	exonic	NIPAL4	.	nonsynonymous SNV	NIPAL4:NM_001172292:exon3:c.C470A:p.A157D,NIPAL4:NM_001099287:exon4:c.C527A:p.A176D	5q33.3	0.0014	rs199422217	0.082	T	0.782	P	0.504	P	0.001	D	1	A	2.11	M	-2.69	D	-3.37	D	0.957	6.366	29.4	0.996	0.864	D	0.512	D	0.676	D	0.554	0	3.86	0.033	0.049	0.993	0.998	8.582	Deleterious
507	5	162095551	G	A	Pathogenic/Likely pathogenic	GABRG2	.	.	.	.	.	.	.	.	.	.	5	162095551	162095551	G	A	exonic	GABRG2	.	nonsynonymous SNV	GABRG2:NM_000816:exon3:c.G316A:p.A106T,GABRG2:NM_198903:exon3:c.G316A:p.A106T,GABRG2:NM_198904:exon3:c.G316A:p.A106T	5q34	.	rs796052505	0.855	T	0.785	P	0.325	B	0.000	D	1	D	0.17	N	-1.12	T	-0.01	N	0.733	5.640	26.6	0.985	0.968	D	-0.481	T	0.290	T	0.554	0	6.07	0.917	1.048	1.000	0.910	20.644	Tolerated
508	5	177210230	C	T	Pathogenic	NSD1	.	.	.	.	.	.	.	.	.	.	5	177210230	177210230	C	T	exonic	NSD1	.	stopgain	NSD1:NM_022455:exon5:c.C1831T:p.R611X,NSD1:NM_172349:exon6:c.C1024T:p.R342X	5q35.3	.	rs587784077	.	.	.	.	.	.	0.013	N	1	A	.	.	.	.	.	.	.	6.380	29.5	0.995	0.126	N	.	.	.	.	0.707	0	3.57	0.871	0.044	0.081	0.041	12.604	Deleterious (DANN)
509	5	177246710	C	T	Pathogenic	NSD1	.	.	.	.	.	.	.	.	.	.	5	177246710	177246710	C	T	exonic	NSD1	.	stopgain	NSD1:NM_022455:exon10:c.C4411T:p.R1471X,NSD1:NM_172349:exon11:c.C3604T:p.R1202X	5q35.3	.	rs570278338	.	.	.	.	.	.	0.000	D	1	A	.	.	.	.	.	.	.	14.832	48	0.998	0.886	D	.	.	.	.	0.707	0	5.65	0.871	0.935	0.993	0.996	16.999	Deleterious (FATHMM)
510	5	177282523	G	A	Pathogenic	NSD1	.	.	.	.	.	.	.	.	.	.	5	177282523	177282523	G	A	exonic	NSD1	.	nonsynonymous SNV	NSD1:NM_022455:exon19:c.G5951A:p.R1984Q,NSD1:NM_172349:exon20:c.G5144A:p.R1715Q	5q35.3	.	rs587784169	0.0	D	1.0	D	0.991	D	0.000	D	1	D	3.965	H	-3.03	D	-3.59	D	0.979	7.940	35	1.000	0.994	D	1.059	D	0.928	D	0.707	0	5.77	0.917	1.048	0.999	0.944	19.958	Deleterious
511	5	177283790	C	T	Pathogenic	NSD1	.	.	.	.	.	.	.	.	.	.	5	177283790	177283790	C	T	exonic	NSD1	.	stopgain	NSD1:NM_022455:exon20:c.C6013T:p.R2005X,NSD1:NM_172349:exon21:c.C5206T:p.R1736X	5q35.3	.	rs587784173	.	.	.	.	.	.	0.000	D	1	A	.	.	.	.	.	.	.	15.703	52	0.998	0.964	D	.	.	.	.	0.707	0	4.5	0.871	0.892	0.956	0.996	15.282	Deleterious (FATHMM)
512	5	177283791	G	A	Pathogenic	NSD1	.	.	.	.	.	.	.	.	.	.	5	177283791	177283791	G	A	exonic	NSD1	.	nonsynonymous SNV	NSD1:NM_022455:exon20:c.G6014A:p.R2005Q,NSD1:NM_172349:exon21:c.G5207A:p.R1736Q	5q35.3	.	rs587784174	0.004	D	1.0	D	0.998	D	0.000	D	1	D	2.21	M	-2.48	D	-3.47	D	0.926	7.902	35	1.000	0.993	D	0.766	D	0.817	D	0.707	0	5.42	0.917	0.998	0.964	0.996	19.595	Deleterious
513	5	177283826	C	T	Pathogenic	NSD1	.	.	.	.	.	.	.	.	.	.	5	177283826	177283826	C	T	exonic	NSD1	.	nonsynonymous SNV	NSD1:NM_022455:exon20:c.C6049T:p.R2017W,NSD1:NM_172349:exon21:c.C5242T:p.R1748W	5q35.3	.	rs587784176	0.0	D	1.0	D	1.0	D	0.000	D	1	D	4.89	H	-3.47	D	-7.2	D	0.972	8.539	35	0.999	0.978	D	1.079	D	0.963	D	0.707	0	5.42	0.871	0.892	0.999	0.978	19.595	Deleterious
514	5	177283827	G	A	Pathogenic	NSD1	.	.	.	.	.	.	.	.	.	.	5	177283827	177283827	G	A	exonic	NSD1	.	nonsynonymous SNV	NSD1:NM_022455:exon20:c.G6050A:p.R2017Q,NSD1:NM_172349:exon21:c.G5243A:p.R1748Q	5q35.3	.	rs587784177	0.006	D	1.0	D	1.0	D	0.000	D	1	D	4.34	H	-3.42	D	-3.6	D	0.966	7.969	35	1.000	0.993	D	1.093	D	0.955	D	0.707	0	5.42	0.917	0.998	0.999	0.970	19.595	Deleterious
515	5	177292044	C	T	Pathogenic	NSD1	.	.	.	.	.	.	.	.	.	.	5	177292044	177292044	C	T	exonic	NSD1	.	stopgain	NSD1:NM_022455:exon22:c.C6349T:p.R2117X,NSD1:NM_172349:exon23:c.C5542T:p.R1848X	5q35.3	.	rs587784190	.	.	.	.	.	.	0.000	D	1	A	.	.	.	.	.	.	.	13.634	42	0.998	0.783	D	.	.	.	.	0.707	0	2.45	-0.639	-0.136	0.988	0.987	14.384	Deleterious (FATHMM)
516	5	177292149	C	T	Pathogenic	NSD1	.	.	.	.	.	.	.	.	.	.	5	177292149	177292149	C	T	exonic	NSD1	.	stopgain	NSD1:NM_022455:exon22:c.C6454T:p.R2152X,NSD1:NM_172349:exon23:c.C5647T:p.R1883X	5q35.3	.	rs587784199	.	.	.	.	.	.	0.000	D	1	D	.	.	.	.	.	.	.	13.537	42	0.995	0.905	D	.	.	.	.	0.707	0	0.909	-0.058	0.847	0.982	1.000	15.133	Deleterious (FATHMM)
517	5	177404231	C	A	Pathogenic	F12|SLC34A1	.	.	.	.	.	.	.	.	.	.	5	177404231	177404231	C	A	exonic	F12	.	nonsynonymous SNV	F12:NM_000505:exon9:c.C983T:p.T328M	5q35.3	.	.	0.011	D	0.999	D	0.791	P	0.241	N	1	N	1.24	L	-2.55	D	-0.94	N	0.337	4.631	24.5	0.998	0.763	D	-0.121	T	0.706	D	0.455	0	4.06	-0.485	0.974	0.001	0.003	12.049	Deleterious
518	5	179836445	C	T	Pathogenic/Likely pathogenic	SQSTM1	.	.	.	.	.	.	.	.	.	.	5	179836445	179836445	C	T	exonic	SQSTM1	.	nonsynonymous SNV	SQSTM1:NM_003900:exon8:c.C1175T:p.P392L,SQSTM1:NM_001142298:exon9:c.C923T:p.P308L,SQSTM1:NM_001142299:exon9:c.C923T:p.P308L	5q35.3	0.0015	rs104893941	0.002	D	0.988	D	0.3	B	0.000	N	1	A	1.52	L	-3.92	D	-6.74	D	0.817	7.325	34	0.996	0.996	D	0.578	D	0.634	D	0.646	0	4.78	0.871	0.935	0.960	0.965	17.807	Deleterious
519	6	3154168	A	T	Pathogenic/Likely pathogenic	TUBB2A	.	.	.	.	.	.	.	.	.	.	6	3154168	3154168	A	T	exonic	TUBB2A	.	synonymous SNV	TUBB2A:NM_001069:exon4:c.A1033A:p.I345I,TUBB2A:NM_001310315:exon4:c.A778A:p.I260I	6p25.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
520	6	7559281	C	T	Pathogenic/Likely pathogenic	DSP	.	.	.	.	.	.	.	.	.	.	6	7559281	7559281	C	T	exonic	DSP	.	stopgain	DSP:NM_001008844:exon4:c.C478T:p.R160X,DSP:NM_004415:exon4:c.C478T:p.R160X	6p24.3	.	rs397516943	.	.	.	.	.	.	0.000	D	1	A	.	.	.	.	.	.	.	9.544	35	0.997	0.880	D	.	.	.	.	0.745	0	3.81	0.871	0.044	0.979	0.997	15.313	Deleterious (FATHMM)
521	6	7565521	G	A	Pathogenic/Likely pathogenic	DSP	.	.	.	.	.	.	.	.	.	.	6	7565521	7565521	G	A	splicing	DSP	NM_004415:exon7:c.939+1G>A,NM_001008844:exon7:c.939+1G>A	.	.	6p24.3	.	rs727504443	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	5.931	27.6	0.995	0.995	D	.	.	.	.	0.156	0	5.55	0.917	1.048	0.881	0.573	19.518	Deleterious (FATHMM)
522	6	7576986	C	T	Pathogenic/Likely pathogenic	DSP	.	.	.	.	.	.	.	.	.	.	6	7576986	7576986	C	T	exonic	DSP	.	stopgain	DSP:NM_001008844:exon20:c.C2821T:p.R941X,DSP:NM_004415:exon20:c.C2821T:p.R941X	6p24.3	.	rs730880082	.	.	.	.	.	.	0.000	D	1	A	.	.	.	.	.	.	.	13.997	44	0.998	0.914	D	.	.	.	.	0.707	0	5.77	0.871	0.935	0.999	1.000	14.794	Deleterious (FATHMM)
523	6	7579820	T	A	Pathogenic/Likely pathogenic	DSP	.	.	.	.	.	.	.	.	.	.	6	7579820	7579820	T	A	exonic	DSP	.	stopgain	DSP:NM_004415:exon23:c.T3630A:p.Y1210X	6p24.3	.	rs727503001	.	.	.	.	.	.	0.000	D	1	A	.	.	.	.	.	.	.	11.132	37	0.996	0.929	D	.	.	.	.	0.707	0	4.2	0.991	1.061	1.000	1.000	11.016	Deleterious (FATHMM)
524	6	7580370	C	T	Pathogenic/Likely pathogenic	DSP	.	.	.	.	.	.	.	.	.	.	6	7580370	7580370	C	T	exonic	DSP	.	stopgain	DSP:NM_004415:exon23:c.C4180T:p.Q1394X	6p24.3	7.7e-05	rs140474226	.	.	.	.	.	.	0.001	N	1	A	.	.	.	.	.	.	.	12.164	38	0.997	0.854	D	.	.	.	.	0.707	0	5.65	0.871	0.065	0.995	0.990	19.722	Deleterious (FATHMM)
525	6	7580721	C	T	Pathogenic/Likely pathogenic	DSP	.	.	.	.	.	.	.	.	.	.	6	7580721	7580721	C	T	exonic	DSP	.	stopgain	DSP:NM_004415:exon23:c.C4531T:p.Q1511X	6p24.3	.	rs397516940	.	.	.	.	.	.	0.000	D	1	A	.	.	.	.	.	.	.	11.957	38	0.997	0.950	D	.	.	.	.	0.707	0	5.74	0.871	0.935	0.594	0.659	19.898	Deleterious (FATHMM)
526	6	32040110	G	T	Pathogenic	CYP21A2	.	.	.	.	.	.	.	.	.	.	6	32040110	32040110	G	T	exonic	CYP21A2	.	nonsynonymous SNV	CYP21A2:NM_001128590:exon6:c.G754T:p.V252L,CYP21A2:NM_000500:exon7:c.G844T:p.V282L	6p21.33	.	rs6471	0.612	T	0.929	P	0.796	P	0.001	D	0.956	A	0.545	N	-0.03	T	-0.83	N	0.727	3.853	23.4	0.991	0.878	D	-0.970	T	0.100	T	0.526	0	4.02	0.917	0.935	0.912	0.412	10.072	Tolerated
527	6	43007265	G	A	Pathogenic	MEA1|PPP2R5D	.	.	.	.	.	.	.	.	.	.	6	43007265	43007265	G	A	exonic	PPP2R5D	.	nonsynonymous SNV	PPP2R5D:NM_180977:exon3:c.G274A:p.E92K,PPP2R5D:NM_001270476:exon5:c.G139A:p.E47K,PPP2R5D:NM_006245:exon5:c.G592A:p.E198K,PPP2R5D:NM_180976:exon5:c.G496A:p.E166K	6p21.1	.	rs863225082	0.0	D	1.0	D	0.996	D	0.000	D	1	D	3.64	H	0.53	T	-3.8	D	0.898	7.066	33	0.999	0.999	D	0.403	D	0.608	D	0.707	0	5.84	0.917	0.953	0.992	0.998	20.155	Deleterious
528	6	43038323	C	T	Pathogenic	CUL7	.	.	.	.	.	.	.	.	.	.	6	43038323	43038323	C	T	exonic	CUL7	.	synonymous SNV	CUL7:NM_001168370:exon25:c.C4969A:p.R1657R,CUL7:NM_014780:exon25:c.C4717A:p.R1573R	6p21.1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
529	6	43044883	T	G	Pathogenic/Likely pathogenic	CUL7	.	.	.	.	.	.	.	.	.	.	6	43044883	43044883	T	G	exonic	CUL7	.	nonsynonymous SNV	CUL7:NM_001168370:exon16:c.T3293C:p.L1098P,CUL7:NM_014780:exon16:c.T3041C:p.L1014P	6p21.1	.	.	0.0	D	1.0	D	0.996	D	0.000	D	1	D	2.085	M	-2.22	D	-4.57	D	0.993	5.100	25.3	0.998	0.996	D	0.601	D	0.719	D	0.707	0	5.18	1.062	1.194	0.883	0.219	15.034	Deleterious
530	6	49431781	C	T	Pathogenic	MUT	.	.	.	.	.	.	.	.	.	.	6	49431781	49431781	C	T	exonic	MUT	.	nonsynonymous SNV	MUT:NM_000255:exon13:c.C2200A:p.Q734K	6p12.3	.	.	0.735	T	0.0	B	0.002	B	0.000	D	1.000	D	-0.155	N	-3.48	D	0.32	N	0.289	0.622	8.305	0.568	0.906	D	-0.556	T	0.410	T	0.706	0	2.83	0.917	-0.415	0.997	0.923	15.961	Tolerated
531	6	49451591	C	T	Pathogenic	MUT	.	.	.	.	.	.	.	.	.	.	6	49451591	49451591	C	T	exonic	MUT	.	synonymous SNV	MUT:NM_000255:exon6:c.C1207A:p.R403R	6p12.3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
532	6	49451690	A	C	Pathogenic/Likely pathogenic	MUT	.	.	.	.	.	.	.	.	.	.	6	49451690	49451690	A	C	exonic	MUT	.	nonsynonymous SNV	MUT:NM_000255:exon6:c.A1108G:p.T370A	6p12.3	.	.	0.0	D	1.0	D	1.0	D	0.000	D	1	D	3.065	M	-5.24	D	-4.95	D	0.78	5.198	25.5	0.998	0.984	D	1.094	D	0.971	D	0.706	0	5.05	0.991	0.913	0.981	0.997	13.977	Deleterious
533	6	51659682	C	T	Pathogenic/Likely pathogenic	PKHD1	.	.	.	.	.	.	.	.	.	.	6	51659682	51659682	C	T	exonic	PKHD1	.	nonsynonymous SNV	PKHD1:NM_138694:exon61:c.C10444A:p.R3482S	6p12.3	.	.	0.005	D	0.984	D	0.512	P	0.028	N	1.000	N	1.04	L	-3.34	D	-4.08	D	0.754	5.643	26.6	0.993	0.505	D	-0.140	T	0.573	D	0.487	0	3.89	0.917	1.048	0.248	0.971	13.341	Deleterious
534	6	51748297	C	T	Pathogenic/Likely pathogenic	PKHD1	.	.	.	.	.	.	.	.	.	.	6	51748297	51748297	C	T	exonic	PKHD1	.	synonymous SNV	PKHD1:NM_138694:exon58:c.C9319A:p.R3107R,PKHD1:NM_170724:exon58:c.C9319A:p.R3107R	6p12.3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
535	6	51753327	C	T	Pathogenic/Likely pathogenic	PKHD1	.	.	.	.	.	.	.	.	.	.	6	51753327	51753327	C	T	exonic	PKHD1	.	synonymous SNV	PKHD1:NM_138694:exon57:c.C8824A:p.R2942R,PKHD1:NM_170724:exon57:c.C8824A:p.R2942R	6p12.3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
536	6	51903601	T	A	Pathogenic/Likely pathogenic	PKHD1	.	.	.	.	.	.	.	.	.	.	6	51903601	51903601	T	A	exonic	PKHD1	.	synonymous SNV	PKHD1:NM_138694:exon43:c.T6992T:p.I2331I,PKHD1:NM_170724:exon43:c.T6992T:p.I2331I	6p12.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
537	6	52024940	C	T	Pathogenic	PKHD1	.	.	.	.	.	.	.	.	.	.	6	52024940	52024940	C	T	exonic	PKHD1	.	synonymous SNV	PKHD1:NM_138694:exon32:c.C4870A:p.R1624R,PKHD1:NM_170724:exon32:c.C4870A:p.R1624R	6p12.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
538	6	52058355	C	T	Pathogenic/Likely pathogenic	PKHD1	.	.	.	.	.	.	.	.	.	.	6	52058355	52058355	C	T	exonic	PKHD1	.	synonymous SNV	PKHD1:NM_138694:exon16:c.C1480A:p.R494R,PKHD1:NM_170724:exon16:c.C1480A:p.R494R	6p12.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
539	6	52083201	C	T	Pathogenic, protective	PKHD1	.	.	.	.	.	.	.	.	.	.	6	52083201	52083201	C	T	exonic	PKHD1	.	nonsynonymous SNV	PKHD1:NM_138694:exon3:c.C107A:p.T36K,PKHD1:NM_170724:exon3:c.C107A:p.T36K	6p12.2	.	.	0.006	D	1.0	D	0.999	D	0.000	D	0.762	D	1.955	M	-2.73	D	-4.01	D	0.906	6.700	32	0.993	0.970	D	0.855	D	0.826	D	0.487	0	5.51	0.917	1.048	0.999	0.997	16.569	Deleterious
540	6	79493636	C	T	Pathogenic	LCA5	.	.	.	.	.	.	.	.	.	.	6	79493636	79493636	C	T	exonic	LCA5	.	nonsynonymous SNV	LCA5:NM_001122769:exon4:c.C835A:p.Q279K,LCA5:NM_181714:exon5:c.C835A:p.Q279K	6q14.1	.	.	0.326	T	0.993	D	0.84	P	0.001	D	0.862	D	1.115	L	-1.0	T	-0.24	N	0.467	4.619	24.5	0.991	0.943	D	-0.288	T	0.367	T	0.638	0	5.56	0.917	0.098	0.404	0.171	18.452	Tolerated
541	6	80168945	G	C	Pathogenic/Likely pathogenic	BCKDHB	.	.	.	.	.	.	.	.	.	.	6	80168945	80168945	G	C	exonic	BCKDHB	.	nonsynonymous SNV	BCKDHB:NM_000056:exon5:c.G548C:p.R183P,BCKDHB:NM_183050:exon5:c.G548C:p.R183P	6q14.1	0.0003	rs79761867	0.001	D	1.0	D	1.0	D	0.000	D	1	A	4.545	H	-3.14	D	-6.81	D	0.987	7.238	34	0.997	0.989	D	1.109	D	0.936	D	0.706	0	5.1	0.917	0.989	0.983	0.996	17.552	Deleterious
542	6	80200990	C	T	Pathogenic/Likely pathogenic	BCKDHB	.	.	.	.	.	.	.	.	.	.	6	80200990	80200990	C	T	exonic	BCKDHB	.	stopgain	BCKDHB:NM_000056:exon7:c.C799T:p.Q267X,BCKDHB:NM_183050:exon7:c.C799T:p.Q267X	6q14.1	.	rs398124594	.	.	.	.	.	.	0.000	D	1	A	.	.	.	.	.	.	.	14.277	45	0.998	0.970	D	.	.	.	.	0.706	0	6.17	0.871	0.935	0.948	0.966	18.373	Deleterious (FATHMM)
543	6	80203114	C	T	Pathogenic/Likely pathogenic	BCKDHB	.	.	.	.	.	.	.	.	.	.	6	80203114	80203114	C	T	exonic	BCKDHB	.	stopgain	BCKDHB:NM_000056:exon8:c.C853T:p.R285X,BCKDHB:NM_183050:exon8:c.C853T:p.R285X	6q14.1	.	rs398124598	.	.	.	.	.	.	0.000	D	1	A	.	.	.	.	.	.	.	10.674	36	0.993	0.720	D	.	.	.	.	0.707	0	1.59	-0.058	0.935	0.972	0.601	8.157	Deleterious (FATHMM)
544	6	80273153	C	T	Pathogenic/Likely pathogenic	BCKDHB	.	.	.	.	.	.	.	.	.	.	6	80273153	80273153	C	T	exonic	BCKDHB	.	stopgain	BCKDHB:NM_000056:exon9:c.C970T:p.R324X,BCKDHB:NM_183050:exon9:c.C970T:p.R324X	6q14.1	.	rs398124603	.	.	.	.	.	.	0.000	D	1	A	.	.	.	.	.	.	.	13.933	44	0.997	0.929	D	.	.	.	.	0.693	0	3.89	0.871	0.935	0.999	0.787	11.355	Deleterious (FATHMM)
545	6	80273205	T	A	Pathogenic/Likely pathogenic	BCKDHB	.	.	.	.	.	.	.	.	.	.	6	80273205	80273205	T	A	exonic	BCKDHB	.	nonsynonymous SNV	BCKDHB:NM_000056:exon9:c.T1022A:p.I341N,BCKDHB:NM_183050:exon9:c.T1022A:p.I341N	6q14.1	.	rs796051939	0.0	D	1.0	D	0.997	D	0.000	D	1	D	4.375	H	-3.71	D	-6.03	D	0.835	6.776	32	0.991	0.986	D	1.094	D	0.954	D	0.693	0	5.72	0.991	1.061	1.000	0.999	12.409	Deleterious
546	6	98926925	C	T	Pathogenic	FBXL4	.	.	.	.	.	.	.	.	.	.	6	98926925	98926925	C	T	exonic	FBXL4	.	synonymous SNV	FBXL4:NM_012160:exon3:c.C64A:p.R22R,FBXL4:NM_001278716:exon4:c.C64A:p.R22R	6q16.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
547	6	118558946	C	T	Pathogenic	PLN|CEP85L	.	.	.	.	.	.	.	.	.	.	6	118558946	118558946	C	T	exonic	PLN	.	nonsynonymous SNV	PLN:NM_002667:exon2:c.C25T:p.R9C	6q22.31	.	rs111033559	0.0	D	0.999	D	0.939	D	0.000	D	1	A	.	.	-2.96	D	-7.33	D	0.969	5.713	26.8	0.998	0.907	D	0.877	D	0.840	D	0.560	0	4.84	0.871	0.852	0.999	0.998	16.699	Deleterious
548	6	118559037	T	G	Pathogenic/Likely pathogenic	PLN|CEP85L	.	.	.	.	.	.	.	.	.	.	6	118559037	118559037	T	G	exonic	PLN	.	stopgain	PLN:NM_002667:exon2:c.T116G:p.L39X	6q22.31	.	rs111033560	.	.	.	.	.	.	0.000	D	1	A	.	.	.	.	.	.	.	10.815	36	0.974	0.932	D	.	.	.	.	0.616	0	5.57	0.991	0.964	0.998	0.854	15.740	Deleterious (FATHMM)
549	6	135433081	C	T	Pathogenic	AHI1	.	.	.	.	.	.	.	.	.	.	6	135433081	135433081	C	T	exonic	AHI1	.	synonymous SNV	AHI1:NM_001134830:exon14:c.C2212A:p.R738R,AHI1:NM_001134832:exon15:c.C2212A:p.R738R,AHI1:NM_017651:exon15:c.C2212A:p.R738R,AHI1:NM_001134831:exon16:c.C2212A:p.R738R	6q23.3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
550	6	135455811	C	T	Pathogenic	AHI1	.	.	.	.	.	.	.	.	.	.	6	135455811	135455811	C	T	exonic	AHI1	.	nonsynonymous SNV	AHI1:NM_001134830:exon8:c.C1267A:p.Q423K,AHI1:NM_001134832:exon9:c.C1267A:p.Q423K,AHI1:NM_017651:exon9:c.C1267A:p.Q423K,AHI1:NM_001134831:exon10:c.C1267A:p.Q423K	6q23.3	.	.	0.099	T	0.998	D	0.995	D	0.000	D	1.000	D	1.95	M	0.26	T	-2.2	N	0.814	5.801	27.1	0.996	0.992	D	-0.469	T	0.326	T	0.615	0	5.7	0.917	0.994	0.996	1.000	19.829	Tolerated
551	6	136822785	C	G	Pathogenic/Likely pathogenic	PEX7	.	.	.	.	.	.	.	.	.	.	6	136822785	136822785	C	G	exonic	PEX7	.	stopgain	PEX7:NM_000288:exon1:c.C120G:p.Y40X	6q23.3	.	rs61753238	.	.	.	.	.	.	0.000	D	1	A	.	.	.	.	.	.	.	12.354	39	0.995	0.906	D	.	.	.	.	0.442	0	5.29	0.853	0.907	0.998	1.000	17.48	Deleterious (FATHMM)
552	6	136898213	T	A	Pathogenic	PEX7	.	.	.	.	.	.	.	.	.	.	6	136898213	136898213	T	A	exonic	PEX7	.	stopgain	PEX7:NM_000288:exon9:c.T875A:p.L292X	6q23.3	0.0005	rs1805137	.	.	.	.	.	.	0.000	D	1	A	.	.	.	.	.	.	.	12.954	40	0.992	0.953	D	.	.	.	.	0.706	0	5.82	0.991	1.061	0.995	0.996	15.166	Deleterious (FATHMM)
553	6	136898242	G	C	Pathogenic	PEX7	.	.	.	.	.	.	.	.	.	.	6	136898242	136898242	G	C	splicing	PEX7	NM_000288:exon9:c.903+1G>C	.	.	6q23.3	7.7e-05	rs148591292	.	.	.	.	.	.	.	.	1	A	.	.	.	.	.	.	.	4.335	24.0	0.995	0.974	D	.	.	.	.	0.263	0	5.82	0.917	1.048	0.990	0.985	18.870	Deleterious (FATHMM)
554	6	157148764	C	T	Pathogenic	ARID1B	.	.	.	.	.	.	.	.	.	.	6	157148764	157148764	C	T	exonic	ARID1B	.	stopgain	ARID1B:NM_017519:exon8:c.C2653T:p.R885X,ARID1B:NM_020732:exon9:c.C2692T:p.R898X	6q25.3	.	rs794727977	.	.	.	.	.	.	0.000	D	1	A	.	.	.	.	.	.	.	13.399	42	0.998	0.862	D	.	.	.	.	0.731	0	6.17	0.871	0.935	1.000	1.000	15.581	Deleterious (FATHMM)
555	7	5977587	G	T	Pathogenic	PMS2	.	.	.	.	.	.	.	.	.	.	7	5977587	5977587	G	T	splicing	PMS2	NM_000535:exon14:c.2445+1C>A	.	.	7p22.1	.	.	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	4.219	23.9	0.990	0.979	D	.	.	.	.	0.263	0	5.75	0.871	0.925	0.953	0.851	18.929	Deleterious (FATHMM)
556	7	5987078	C	T	Pathogenic	PMS2	.	.	.	.	.	.	.	.	.	.	7	5987078	5987078	C	T	exonic	PMS2	.	synonymous SNV	PMS2:NM_000535:exon11:c.C1687A:p.R563R	7p22.1	.	rs587778618	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
557	7	5989799	G	A	Pathogenic/Likely pathogenic	PMS2	.	.	.	.	.	.	.	.	.	.	7	5989799	5989799	G	A	splicing	PMS2	NM_000535:exon10:c.1144+1C>T	.	.	7p22.1	.	.	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	4.783	24.7	0.993	0.940	D	.	.	.	.	0.156	0	4.85	0.868	0.847	0.933	0.992	14.708	Deleterious (FATHMM)
558	7	5992059	A	G	Pathogenic/Likely pathogenic	PMS2	.	.	.	.	.	.	.	.	.	.	7	5992059	5992059	A	G	splicing	PMS2	NM_000535:exon9:c.904-2T>C	.	.	7p22.1	.	.	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	2.401	18.83	0.878	0.992	D	.	.	.	.	0.099	0	4.22	0.991	1.007	0.101	0.714	11.594	Deleterious (FATHMM)
559	7	5995586	C	G	Pathogenic	PMS2	.	.	.	.	.	.	.	.	.	.	7	5995586	5995586	C	G	exonic	PMS2	.	synonymous SNV	PMS2:NM_000535:exon8:c.C851C:p.S284S	7p22.1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
560	7	5995614	C	T	Pathogenic	PMS2	.	.	.	.	.	.	.	.	.	.	7	5995614	5995614	C	T	exonic	PMS2	.	nonsynonymous SNV	PMS2:NM_000535:exon8:c.C823A:p.Q275K	7p22.1	.	.	0.973	T	0.064	B	0.008	B	0.320	N	1	N	-1.395	N	-1.66	D	0.38	N	0.214	-0.338	0.543	0.815	0.159	N	-0.874	T	0.131	T	0.719	0	0.6	0.897	0.947	0.037	0.833	4.790	Tolerated
561	7	5997364	C	A	Pathogenic	PMS2	.	.	.	.	.	.	.	.	.	.	7	5997364	5997364	C	A	exonic	PMS2	.	synonymous SNV	PMS2:NM_000535:exon7:c.C765T:p.Y255Y	7p22.1	.	rs573125799	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
562	7	6003794	A	T	Pathogenic/Likely pathogenic	PMS2	.	.	.	.	.	.	.	.	.	.	7	6003794	6003794	A	T	splicing	PMS2	NM_000535:exon4:c.251-2T>A	.	.	7p22.1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.
563	7	6009018	T	A	Pathogenic	PMS2	.	.	.	.	.	.	.	.	.	.	7	6009018	6009018	T	A	exonic	PMS2	.	synonymous SNV	PMS2:NM_000535:exon1:c.T2T:p.M1M	7p22.1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
564	7	6009019	A	T	Pathogenic	PMS2	.	.	.	.	.	.	.	.	.	.	7	6009019	6009019	A	T	exonic	PMS2	.	synonymous SNV	PMS2:NM_000535:exon1:c.A1A:p.M1M	7p22.1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
565	7	44149763	G	A	Pathogenic	GCK	.	.	.	.	.	.	.	.	.	.	7	44149763	44149763	G	A	exonic	GCK	.	nonsynonymous SNV	GCK:NM_000162:exon6:c.G676T:p.V226L,GCK:NM_033507:exon6:c.G679T:p.V227L,GCK:NM_033508:exon7:c.G673T:p.V225L	7p13	.	.	0.072	T	0.997	D	0.991	D	0.000	D	1	D	1.2	L	-4.53	D	-2.19	N	0.931	6.417	29.7	0.998	0.955	D	1.002	D	0.934	D	0.578	0	6.17	0.791	0.935	0.987	0.995	20.490	Deleterious
566	7	44150004	G	A	Pathogenic	GCK	.	.	.	.	.	.	.	.	.	.	7	44150004	44150004	G	A	exonic	GCK	.	nonsynonymous SNV	GCK:NM_000162:exon5:c.G544T:p.V182L,GCK:NM_033507:exon5:c.G547T:p.V183L,GCK:NM_033508:exon6:c.G541T:p.V181L	7p13	.	.	0.001	D	0.991	D	0.983	D	0.000	D	1	D	2.87	M	-5.14	D	-2.74	D	0.954	7.371	34	0.998	0.958	D	1.095	D	0.974	D	0.554	0	5.83	0.791	0.935	0.975	0.985	19.748	Deleterious
567	7	44152420	G	A	Pathogenic	GCK	.	.	.	.	.	.	.	.	.	.	7	44152420	44152420	G	A	exonic	GCK	.	nonsynonymous SNV	GCK:NM_000162:exon3:c.G214T:p.G72W,GCK:NM_033507:exon3:c.G217T:p.G73W,GCK:NM_033508:exon4:c.G211T:p.G71W	7p13	.	.	0.0	D	1.0	D	1.0	D	0.000	D	1	D	3.84	H	-6.53	D	-7.73	D	0.99	7.725	35	0.995	0.959	D	0.947	D	0.992	D	0.554	0	4.67	0.791	0.837	0.967	0.980	17.556	Deleterious
568	7	44153433	C	T	Pathogenic/Likely pathogenic	GCK	.	.	.	.	.	.	.	.	.	.	7	44153433	44153433	C	T	exonic	GCK	.	nonsynonymous SNV	GCK:NM_000162:exon2:c.C76A:p.Q26K,GCK:NM_033507:exon2:c.C79A:p.Q27K,GCK:NM_033508:exon3:c.C73A:p.Q25K	7p13	.	.	0.068	T	0.0	B	0.001	B	0.025	N	0.966	D	0.09	N	-5.23	D	-0.17	N	0.474	2.144	17.14	0.975	0.786	D	0.777	D	0.843	D	0.554	0	5.26	0.830	1.048	0.999	0.999	14.823	Deleterious
569	7	66081825	G	A	Pathogenic/Likely pathogenic	ASL	.	.	.	.	.	.	.	.	.	.	7	66081825	66081825	G	A	exonic	ASL	.	nonsynonymous SNV	ASL:NM_001024943:exon2:c.G35A:p.R12Q,ASL:NM_001024944:exon2:c.G35A:p.R12Q,ASL:NM_001024946:exon2:c.G35A:p.R12Q,ASL:NM_000048:exon3:c.G35A:p.R12Q	7q11.21	0.0022	rs145138923	0.0	D	1.0	D	0.999	D	0.000	D	1	D	4.225	H	-5.81	D	-3.51	D	0.919	7.265	34	1.000	0.996	D	0.987	D	0.988	D	0.706	0	4.9	0.866	1.048	1.000	0.999	17.249	Deleterious
570	7	66083175	G	A	Pathogenic	ASL	.	.	.	.	.	.	.	.	.	.	7	66083175	66083175	G	A	splicing	ASL	NM_000048:exon6:c.446+1G>A,NM_001024943:exon5:c.446+1G>A,NM_001024944:exon5:c.446+1G>A,NM_001024946:exon5:c.446+1G>A	.	.	7q11.21	7.7e-05	rs142637046	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	4.825	24.8	0.994	0.982	D	.	.	.	.	0.295	0	4.68	0.866	0.126	0.988	0.770	16.766	Deleterious (FATHMM)
571	7	66086751	G	A	Pathogenic	ASL	.	.	.	.	.	.	.	.	.	.	7	66086751	66086751	G	A	exonic	ASL	.	nonsynonymous SNV	ASL:NM_001024943:exon7:c.G532A:p.V178M,ASL:NM_001024944:exon7:c.G532A:p.V178M,ASL:NM_000048:exon8:c.G532A:p.V178M	7q11.21	0.0005	rs28941473	0.22	T	0.974	D	0.502	P	0.000	D	1	A	1.11	L	-5.85	D	-0.36	N	0.834	1.896	15.56	0.986	0.940	D	1.111	D	0.939	D	0.707	0	4.78	0.866	1.048	0.969	0.085	13.899	Deleterious
572	7	66086763	C	T	Pathogenic	ASL	.	.	.	.	.	.	.	.	.	.	7	66086763	66086763	C	T	exonic	ASL	.	stopgain	ASL:NM_001024943:exon7:c.C544T:p.R182X,ASL:NM_001024944:exon7:c.C544T:p.R182X,ASL:NM_000048:exon8:c.C544T:p.R182X	7q11.21	.	rs398123126	.	.	.	.	.	.	0.000	D	1	A	.	.	.	.	.	.	.	12.770	40	0.996	0.855	D	.	.	.	.	0.707	0	3.72	-0.108	0.036	0.969	0.876	13.304	Deleterious (FATHMM)
573	7	66089114	A	G	Pathogenic	ASL	.	.	.	.	.	.	.	.	.	.	7	66089114	66089114	A	G	exonic	ASL	.	nonsynonymous SNV	ASL:NM_001024946:exon10:c.A779G:p.Q260R,ASL:NM_001024943:exon11:c.A857G:p.Q286R,ASL:NM_001024944:exon11:c.A857G:p.Q286R,ASL:NM_000048:exon12:c.A857G:p.Q286R	7q11.21	.	rs28941472	0.004	D	0.874	P	0.772	P	0.000	D	1	A	4.305	H	-5.68	D	-3.85	D	0.941	5.707	26.8	0.998	0.989	D	1.016	D	0.985	D	0.732	0	4.87	1.003	1.179	1.000	1.000	13.834	Deleterious
574	7	66089693	C	T	Pathogenic	ASL	.	.	.	.	.	.	.	.	.	.	7	66089693	66089693	C	T	exonic	ASL	.	stopgain	ASL:NM_001024944:exon12:c.C1000T:p.Q334X,ASL:NM_001024946:exon12:c.C982T:p.Q328X,ASL:NM_001024943:exon13:c.C1060T:p.Q354X,ASL:NM_000048:exon14:c.C1060T:p.Q354X	7q11.21	.	rs367543005	.	.	.	.	.	.	0.000	D	1	A	.	.	.	.	.	.	.	11.936	38	0.996	0.777	D	.	.	.	.	0.732	0	3.03	-0.105	0.034	0.946	0.997	14.989	Deleterious (FATHMM)
575	7	74051747	C	G	Pathogenic	ELN	.	.	.	.	.	.	.	.	.	.	7	74051747	74051747	C	G	intronic	ELN	.	.	.	7q11.23	.	rs397516433	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	probably Tolerated (Intron)
576	7	74051748	A	G	Pathogenic	ELN	.	.	.	.	.	.	.	.	.	.	7	74051748	74051748	A	G	splicing	ELN	NM_001081754:exon16:c.815-2A>G,NM_000501:exon16:c.800-2A>G,NM_001081753:exon16:c.815-2A>G,NM_001278939:exon16:c.800-2A>G,NM_001278918:exon13:c.668-2A>G,NM_001278917:exon15:c.770-2A>G,NM_001081755:exon16:c.800-2A>G,NM_001081752:exon15:c.770-2A>G,NM_001278916:exon15:c.758-2A>G,NM_001278915:exon16:c.800-2A>G,NM_001278914:exon15:c.785-2A>G,NM_001278913:exon13:c.692-2A>G,NM_001278912:exon16:c.800-2A>G	.	.	7q11.23	.	rs727503027	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	4.129	23.8	0.991	0.537	D	.	.	.	.	0.114	0	4.81	1.062	1.183	0.885	0.898	11.103	Deleterious (FATHMM)
577	7	74054770	G	A	Pathogenic	ELN	.	.	.	.	.	.	.	.	.	.	7	74054770	74054770	G	A	splicing	ELN	NM_001081754:exon19:c.1165+1G>A,NM_000501:exon19:c.1150+1G>A,NM_001081753:exon19:c.1165+1G>A,NM_001278939:exon19:c.1150+1G>A,NM_001278918:exon16:c.1018+1G>A,NM_001278917:exon18:c.1120+1G>A,NM_001081755:exon19:c.1150+1G>A,NM_001081752:exon18:c.1120+1G>A,NM_001278916:exon18:c.1108+1G>A,NM_001278915:exon19:c.1150+1G>A,NM_001278914:exon18:c.1135+1G>A,NM_001278913:exon16:c.1042+1G>A,NM_001278912:exon19:c.1150+1G>A	.	.	7q11.23	.	rs727503030	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	3.964	23.6	0.993	0.867	D	.	.	.	.	0.066	0	4.04	0.917	0.997	0.919	0.946	11.955	Deleterious (FATHMM)
578	7	74056680	C	T	Pathogenic	ELN	.	.	.	.	.	.	.	.	.	.	7	74056680	74056680	C	T	exonic	ELN	.	stopgain	ELN:NM_001278913:exon18:c.C1138T:p.Q380X,ELN:NM_001278918:exon18:c.C1114T:p.Q372X,ELN:NM_001081752:exon20:c.C1294T:p.Q432X,ELN:NM_001278914:exon20:c.C1309T:p.Q437X,ELN:NM_001278916:exon20:c.C1282T:p.Q428X,ELN:NM_001278917:exon20:c.C1294T:p.Q432X,ELN:NM_000501:exon21:c.C1324T:p.Q442X,ELN:NM_001081753:exon21:c.C1339T:p.Q447X,ELN:NM_001081754:exon21:c.C1339T:p.Q447X,ELN:NM_001081755:exon21:c.C1324T:p.Q442X,ELN:NM_001278912:exon21:c.C1324T:p.Q442X,ELN:NM_001278915:exon21:c.C1324T:p.Q442X,ELN:NM_001278939:exon21:c.C1324T:p.Q442X	7q11.23	.	rs137854452	.	.	.	.	.	.	.	.	1	A	.	.	.	.	.	.	.	8.703	35	0.989	0.244	N	.	.	.	.	0.646	0	1.97	-0.064	0.843	0.003	0.315	9.723	Deleterious (DANN)
579	7	76303844	G	T	Pathogenic/Likely pathogenic	HSPB1	.	.	.	.	.	.	.	.	.	.	7	76303844	76303844	G	T	exonic	HSPB1	.	nonsynonymous SNV	HSPB1:NM_001540:exon2:c.G407T:p.R136L	7q11.23	.	rs863225022	0.0	D	0.898	P	0.869	P	0.000	D	1	D	3.905	H	-2.94	D	-6.36	D	0.956	6.212	28.7	0.998	0.967	D	1.066	D	0.907	D	0.442	0	4.42	0.917	1.036	0.991	0.994	16.221	Deleterious
580	7	76304078	C	T	Pathogenic/Likely pathogenic	HSPB1	.	.	.	.	.	.	.	.	.	.	7	76304078	76304078	C	T	exonic	HSPB1	.	stopgain	HSPB1:NM_001540:exon3:c.C523T:p.Q175X	7q11.23	.	rs863225023	.	.	.	.	.	.	0.000	D	1	D	.	.	.	.	.	.	.	11.379	37	0.995	0.806	D	.	.	.	.	0.733	0	4.65	0.871	0.056	0.128	0.018	16.694	Deleterious (FATHMM)
581	7	92222870	C	T	Pathogenic	KRIT1	.	.	.	.	.	.	.	.	.	.	7	92222870	92222870	C	T	exonic	KRIT1	.	nonsynonymous SNV	KRIT1:NM_001013406:exon11:c.C1219A:p.Q407K,KRIT1:NM_004912:exon13:c.C1363A:p.Q455K,KRIT1:NM_194454:exon13:c.C1363A:p.Q455K,KRIT1:NM_194455:exon13:c.C1363A:p.Q455K,KRIT1:NM_194456:exon14:c.C1363A:p.Q455K	7q21.2	.	.	0.384	T	0.002	B	0.003	B	0.000	D	1.000	D	0.41	N	1.01	T	-0.46	N	0.411	2.038	16.45	0.936	0.981	D	-0.894	T	0.157	T	0.732	0	5.26	0.917	0.902	0.998	1.000	18.865	Tolerated
582	7	92494486	G	A	Pathogenic/Likely pathogenic	PEX1|GATAD1	.	.	.	.	.	.	.	.	.	.	7	92494486	92494486	G	A	splicing	PEX1	NM_000466:exon18:c.2926+1C>T,NM_001282677:exon17:c.2755+1C>T,NM_001282678:exon18:c.2302+1C>T	.	.	7q21.2	.	.	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	6.029	28.0	0.995	0.998	D	.	.	.	.	0.295	0	5.64	0.871	0.931	0.997	1.000	19.702	Deleterious (FATHMM)
583	7	92501562	G	A	Pathogenic	PEX1	.	.	.	.	.	.	.	.	.	.	7	92501562	92501562	G	A	exonic	PEX1	.	nonsynonymous SNV	PEX1:NM_001282677:exon14:c.G2357T:p.G786V,PEX1:NM_000466:exon15:c.G2528T:p.G843V,PEX1:NM_001282678:exon15:c.G1904T:p.G635V	7q21.2	.	.	0.001	D	1.0	D	1.0	D	0.000	D	1	D	2.86	M	-3.33	D	-8.61	D	0.984	7.140	34	0.998	0.989	D	1.005	D	0.912	D	0.707	0	5.78	0.871	0.931	1.000	0.996	20.012	Deleterious
584	7	92501923	C	T	Pathogenic/Likely pathogenic	PEX1	.	.	.	.	.	.	.	.	.	.	7	92501923	92501923	C	T	exonic	PEX1	.	synonymous SNV	PEX1:NM_001282677:exon13:c.C2212A:p.R738R,PEX1:NM_000466:exon14:c.C2383A:p.R795R,PEX1:NM_001282678:exon14:c.C1759A:p.R587R	7q21.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
585	7	107661709	C	A	Pathogenic/Likely pathogenic	SLC26A4|SLC26A4-AS1	.	.	.	.	.	.	.	.	.	.	7	107661709	107661709	C	A	exonic	SLC26A4	.	stopgain	SLC26A4:NM_000441:exon2:c.C68A:p.S23X	7q22.3	.	rs397516430	.	.	.	.	.	.	0.016	N	1	A	.	.	.	.	.	.	.	9.138	35	0.990	0.715	D	.	.	.	.	0.443	1	4.21	0.871	0.826	0.868	0.993	11.128	Deleterious (FATHMM)
586	7	107661726	G	C	Pathogenic/Likely pathogenic	SLC26A4|SLC26A4-AS1	.	.	.	.	.	.	.	.	.	.	7	107661726	107661726	G	C	exonic	SLC26A4	.	nonsynonymous SNV	SLC26A4:NM_000441:exon2:c.G85C:p.E29Q	7q22.3	.	rs111033205	0.224	T	0.662	P	0.298	B	0.000	D	0.928	D	1.895	L	-2.75	D	-1.34	N	0.802	3.477	23.1	0.983	0.739	D	0.395	D	0.730	D	0.443	1	4.21	0.917	0.923	0.996	1.000	15.840	Deleterious
587	7	107661807	T	C	Pathogenic	SLC26A4	.	.	.	.	.	.	.	.	.	.	7	107661807	107661807	T	C	splicing	SLC26A4	NM_000441:exon2:c.164+2T>C	.	.	7q22.3	.	rs397516420	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	4.996	25.1	0.991	0.894	D	.	.	.	.	0.167	0	4.21	0.991	0.935	0.997	0.974	12.682	Deleterious (FATHMM)
588	7	107672245	G	T	Pathogenic	SLC26A4	.	.	.	.	.	.	.	.	.	.	7	107672245	107672245	G	T	exonic	SLC26A4	.	nonsynonymous SNV	SLC26A4:NM_000441:exon4:c.G412T:p.V138F	7q22.3	7.7e-05	rs111033199	0.001	D	0.996	D	0.983	D	0.000	D	1.000	A	2.72	M	-3.11	D	-3.77	D	0.969	3.357	22.9	0.996	0.974	D	0.957	D	0.884	D	0.487	0	5.12	0.917	1.048	1.000	1.000	18.931	Deleterious
589	7	107674302	G	C	Pathogenic/Likely pathogenic	SLC26A4	.	.	.	.	.	.	.	.	.	.	7	107674302	107674302	G	C	exonic	SLC26A4	.	nonsynonymous SNV	SLC26A4:NM_000441:exon5:c.G554C:p.R185T	7q22.3	.	rs542620119	0.001	D	0.999	D	0.98	D	0.000	D	1.000	D	2.96	M	-3.33	D	-5.52	D	0.962	4.706	24.6	0.982	0.994	D	1.016	D	0.908	D	0.554	0	5.07	0.917	0.953	0.546	0.081	18.447	Deleterious
590	7	107674970	G	T	Pathogenic	SLC26A4	.	.	.	.	.	.	.	.	.	.	7	107674970	107674970	G	T	exonic	SLC26A4	.	nonsynonymous SNV	SLC26A4:NM_000441:exon6:c.G626T:p.G209V	7q22.3	0.0005	rs111033303	0.0	D	1.0	D	1.0	D	0.000	D	1	A	3.31	M	-4.24	D	-8.9	D	0.997	6.446	29.8	0.998	0.994	D	1.096	D	0.962	D	0.554	0	5.61	0.917	0.953	1.000	1.000	19.625	Deleterious
591	7	107675051	T	C	Pathogenic	SLC26A4	.	.	.	.	.	.	.	.	.	.	7	107675051	107675051	T	C	exonic	SLC26A4	.	nonsynonymous SNV	SLC26A4:NM_000441:exon6:c.T707C:p.L236P	7q22.3	0.0007	rs80338848	0.0	D	0.998	D	0.98	D	0.024	N	1	A	2.655	M	-3.71	D	-6.19	D	0.956	6.239	28.8	0.999	0.983	D	1.060	D	0.923	D	0.554	0	5.41	0.991	1.061	0.996	0.998	15.433	Deleterious
592	7	107675060	T	A	Pathogenic/Likely pathogenic	SLC26A4	.	.	.	.	.	.	.	.	.	.	7	107675060	107675060	T	A	exonic	SLC26A4	.	nonsynonymous SNV	SLC26A4:NM_000441:exon6:c.T716A:p.V239D	7q22.3	.	rs111033256	0.001	D	0.845	P	0.892	P	0.000	D	1.000	D	2.11	M	-3.22	D	-5.67	D	0.956	6.380	29.5	0.986	0.980	D	0.924	D	0.867	D	0.554	0	5.59	0.991	1.061	0.991	0.986	15.761	Deleterious
593	7	107683453	A	G	Pathogenic	SLC26A4	.	.	.	.	.	.	.	.	.	.	7	107683453	107683453	A	G	splicing	SLC26A4	NM_000441:exon8:c.919-2A>G	.	.	7q22.3	.	rs111033313	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	4.824	24.8	0.996	0.994	D	.	.	.	.	0.061	0	5.62	1.062	1.199	0.998	1.000	16.117	Deleterious (FATHMM)
594	7	107683538	G	A	Pathogenic	SLC26A4	.	.	.	.	.	.	.	.	.	.	7	107683538	107683538	G	A	splicing	SLC26A4	NM_000441:exon8:c.1001+1G>A	.	.	7q22.3	0.0005	rs80338849	.	.	.	.	.	.	.	.	1	A	.	.	.	.	.	.	.	5.460	26.1	0.996	0.997	D	.	.	.	.	0.061	0	5.62	0.917	1.048	0.998	0.953	20.024	Deleterious (FATHMM)
595	7	107690200	G	A	Pathogenic	SLC26A4	.	.	.	.	.	.	.	.	.	.	7	107690200	107690200	G	A	exonic	SLC26A4	.	nonsynonymous SNV	SLC26A4:NM_000441:exon10:c.G1226A:p.R409H	7q22.3	.	rs111033305	0.0	D	1.0	D	1.0	D	0.000	D	1.000	D	3.43	M	-3.86	D	-4.8	D	0.998	7.355	34	0.999	0.960	D	1.092	D	0.946	D	0.447	0	5.1	0.917	1.048	0.995	0.810	18.711	Deleterious
596	7	107690203	C	T	Pathogenic	SLC26A4	.	.	.	.	.	.	.	.	.	.	7	107690203	107690203	C	T	exonic	SLC26A4	.	nonsynonymous SNV	SLC26A4:NM_000441:exon10:c.C1229T:p.T410M	7q22.3	0.0002	rs111033220	0.0	D	1.0	D	0.996	D	0.000	D	1.000	D	3.18	M	-3.61	D	-4.03	D	0.996	7.062	33	0.999	0.898	D	1.070	D	0.931	D	0.447	0	5.1	0.871	0.935	0.995	0.727	18.711	Deleterious
597	7	107694402	G	C	Pathogenic/Likely pathogenic	SLC26A4	.	.	.	.	.	.	.	.	.	.	7	107694402	107694402	G	C	splicing	SLC26A4	NM_000441:exon11:c.1264-1G>C	.	.	7q22.3	.	rs111033311	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	5.245	25.6	0.995	0.969	D	.	.	.	.	0.119	0	5.93	0.917	1.048	0.999	0.992	20.336	Deleterious (FATHMM)
598	7	107694475	C	T	Pathogenic/Likely pathogenic	SLC26A4	.	.	.	.	.	.	.	.	.	.	7	107694475	107694475	C	T	exonic	SLC26A4	.	stopgain	SLC26A4:NM_000441:exon11:c.C1336T:p.Q446X	7q22.3	.	rs397516416	.	.	.	.	.	.	0.000	D	1	A	.	.	.	.	.	.	.	13.961	44	0.998	0.949	D	.	.	.	.	0.487	0	5.93	0.871	0.935	1.000	1.000	20.336	Deleterious (FATHMM)
599	7	107695984	G	A	Pathogenic/Likely pathogenic	SLC26A4	.	.	.	.	.	.	.	.	.	.	7	107695984	107695984	G	A	exonic	SLC26A4	.	nonsynonymous SNV	SLC26A4:NM_000441:exon13:c.G1489A:p.G497S	7q22.3	.	rs111033308	0.0	D	1.0	D	1.0	D	0.000	D	1.000	A	3.455	M	-4.45	D	-5.78	D	0.984	7.418	34	0.999	0.993	D	1.047	D	0.986	D	0.487	0	6.07	0.917	1.048	0.943	0.983	20.659	Deleterious
600	7	107698085	T	C	Pathogenic/Likely pathogenic	SLC26A4	.	.	.	.	.	.	.	.	.	.	7	107698085	107698085	T	C	exonic	SLC26A4	.	nonsynonymous SNV	SLC26A4:NM_000441:exon14:c.T1588C:p.Y530H	7q22.3	.	rs111033254	0.019	D	1.0	D	0.999	D	0.000	D	1.000	A	2.82	M	-3.53	D	-4.82	D	0.965	6.335	29.3	0.999	0.988	D	1.086	D	0.944	D	0.487	0	5.96	0.991	1.061	0.999	1.000	16.428	Deleterious
601	7	107698112	G	A	Pathogenic	SLC26A4	.	.	.	.	.	.	.	.	.	.	7	107698112	107698112	G	A	splicing	SLC26A4	NM_000441:exon14:c.1614+1G>A	.	.	7q22.3	7.7e-05	rs111033312	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	3.240	22.8	0.960	0.990	D	.	.	.	.	0.054	0	5.07	0.917	1.048	0.999	0.977	16.571	Deleterious (FATHMM)
602	7	107710126	C	T	Pathogenic/Likely pathogenic	SLC26A4	.	.	.	.	.	.	.	.	.	.	7	107710126	107710126	C	T	exonic	SLC26A4	.	nonsynonymous SNV	SLC26A4:NM_000441:exon19:c.C2162T:p.T721M	7q22.3	.	rs121908363	0.0	D	1.0	D	0.999	D	0.000	D	1.000	A	2.56	M	-3.59	D	-4.7	D	0.962	7.293	34	0.999	0.944	D	1.017	D	0.915	D	0.554	0	5.51	0.871	0.932	0.865	0.906	19.783	Deleterious
603	7	107915506	G	T	Pathogenic	DLD	.	.	.	.	.	.	.	.	.	.	7	107915506	107915506	G	T	exonic	DLD	.	nonsynonymous SNV	DLD:NM_001289750:exon7:c.G388T:p.G130C,DLD:NM_001289751:exon8:c.G616T:p.G206C,DLD:NM_001289752:exon8:c.G541T:p.G181C,DLD:NM_000108:exon9:c.G685T:p.G229C	7q31.1	0.0002	rs121964990	0.0	D	1.0	D	1.0	D	0.000	D	1	A	4.035	H	0.3	T	-8.42	D	0.97	6.705	32	0.997	0.993	D	0.425	D	0.577	D	0.732	0	5.79	0.917	0.902	0.990	0.919	20.035	Deleterious
604	7	117611650	G	A	Pathogenic/Likely pathogenic, not provided	CFTR	.	.	.	.	.	.	.	.	.	.	7	117611650	117611650	G	A	exonic	CFTR	.	nonsynonymous SNV	CFTR:NM_000492:exon20:c.G3209A:p.R1070Q	7q31.2	7.7e-05	rs78769542	0.416	T	1.0	D	0.998	D	0.000	D	1	A	0.965	L	-2.67	D	-0.14	N	0.936	5.709	26.8	1.000	0.997	D	0.447	D	0.767	D	0.638	0	5.69	0.917	0.949	0.998	0.979	19.821	Deleterious
605	7	117614699	G	C	Pathogenic	CFTR	.	.	.	.	.	.	.	.	.	.	7	117614699	117614699	G	C	exonic	CFTR	.	nonsynonymous SNV	CFTR:NM_000492:exon21:c.G3454C:p.D1152H	7q31.2	0.0002	rs75541969	0.005	D	0.574	P	0.572	P	0.000	D	1.000	D	2.15	M	-3.51	D	-2.68	D	0.785	6.538	31	0.996	0.976	D	-0.376	T	0.407	T	0.554	0	5.9	0.917	0.902	0.997	0.991	20.270	Tolerated
606	7	140749365	T	G	Pathogenic	BRAF	.	.	.	.	.	.	.	.	.	.	7	140749365	140749365	T	G	exonic	BRAF	.	synonymous SNV	BRAF:NM_004333:exon16:c.T1914C:p.D638D	7q34	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
607	7	140753334	A	C	Pathogenic	BRAF	.	.	.	.	.	.	.	.	.	.	7	140753334	140753334	A	C	exonic	BRAF	.	nonsynonymous SNV	BRAF:NM_004333:exon15:c.A1801G:p.K601E	7q34	.	rs121913364	0.0	D	0.784	P	0.626	P	0.000	D	1	D	0.74	N	-1.64	D	-3.71	D	0.947	4.670	24.5	0.999	0.977	D	-0.875	T	0.186	T	0.651	0	5.65	0.991	1.057	1.000	1.000	15.933	Tolerated
608	7	140753346	C	G	Pathogenic	BRAF	.	.	.	.	.	.	.	.	.	.	7	140753346	140753346	C	G	exonic	BRAF	.	synonymous SNV	BRAF:NM_004333:exon15:c.C1789C:p.L597L	7q34	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
609	7	140753348	G	T	Pathogenic	BRAF	.	.	.	.	.	.	.	.	.	.	7	140753348	140753348	G	T	exonic	BRAF	.	nonsynonymous SNV	BRAF:NM_004333:exon15:c.G1787A:p.G596D	7q34	.	.	0.0	D	1.0	D	1.0	D	0.000	D	1	D	3.55	H	-7.57	D	-6.4	D	0.946	7.072	33	0.999	0.978	D	0.448	D	0.625	D	0.651	0	5.65	0.871	0.931	1.000	1.000	19.792	Deleterious
610	7	140753350	T	G	Pathogenic/Likely pathogenic	BRAF	.	.	.	.	.	.	.	.	.	.	7	140753350	140753350	T	G	exonic	BRAF	.	synonymous SNV	BRAF:NM_004333:exon15:c.T1785C:p.F595F	7q34	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
611	7	140754187	A	G	Pathogenic	BRAF	.	.	.	.	.	.	.	.	.	.	7	140754187	140754187	A	G	exonic	BRAF	.	nonsynonymous SNV	BRAF:NM_004333:exon14:c.A1741C:p.N581H	7q34	.	rs180177040	0.001	D	1.0	D	1.0	D	0.000	D	1	D	3.77	H	-6.86	D	-4.29	D	0.677	5.958	27.7	0.997	0.991	D	0.938	D	0.993	D	0.476	0	5.26	0.673	1.061	1.000	1.000	15.495	Deleterious
612	7	140754233	T	G	Pathogenic/Likely pathogenic	BRAF	.	.	.	.	.	.	.	.	.	.	7	140754233	140754233	T	G	exonic	BRAF	.	synonymous SNV	BRAF:NM_004333:exon14:c.T1695C:p.D565D	7q34	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
613	7	140778006	A	T	Pathogenic/Likely pathogenic	BRAF	.	.	.	.	.	.	.	.	.	.	7	140778006	140778006	A	T	exonic	BRAF	.	synonymous SNV	BRAF:NM_004333:exon12:c.A1502A:p.E501E	7q34	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
614	7	140778006	A	G	Pathogenic	BRAF	.	.	.	.	.	.	.	.	.	.	7	140778006	140778006	A	G	exonic	BRAF	.	nonsynonymous SNV	BRAF:NM_004333:exon12:c.A1502C:p.E501A	7q34	.	rs180177039	0.001	D	1.0	D	1.0	D	0.000	D	1	D	3.775	H	-6.49	D	-5.52	D	0.979	6.632	32	0.997	0.996	D	0.495	D	0.609	D	0.732	0	4.96	0.991	1.007	1.000	1.000	14.344	Deleterious
615	7	140778007	G	A	Pathogenic/Likely pathogenic	BRAF	.	.	.	.	.	.	.	.	.	.	7	140778007	140778007	G	A	exonic	BRAF	.	stopgain	BRAF:NM_004333:exon12:c.G1501T:p.E501X	7q34	.	.	.	.	.	.	.	.	0.000	D	1	A	.	.	.	.	.	.	.	14.756	47	0.996	0.996	D	.	.	.	.	0.732	0	4.96	0.871	0.888	1.000	1.000	17.868	Deleterious (FATHMM)
616	7	140778011	A	C	Pathogenic/Likely pathogenic	BRAF	.	.	.	.	.	.	.	.	.	.	7	140778011	140778011	A	C	exonic	BRAF	.	synonymous SNV	BRAF:NM_004333:exon12:c.A1497G:p.K499K	7q34	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
617	7	140778013	A	G	Pathogenic/Likely pathogenic	BRAF	.	.	.	.	.	.	.	.	.	.	7	140778013	140778013	A	G	exonic	BRAF	.	nonsynonymous SNV	BRAF:NM_004333:exon12:c.A1495C:p.K499Q	7q34	.	.	0.002	D	0.018	B	0.03	B	0.000	D	1	D	-0.345	N	-1.61	D	-3.24	D	0.755	5.937	27.6	0.994	0.996	D	-0.583	T	0.289	T	0.732	0	4.96	0.991	1.007	1.000	1.000	14.344	Tolerated
618	7	140778054	T	C	Pathogenic/Likely pathogenic	BRAF	.	.	.	.	.	.	.	.	.	.	7	140778054	140778054	T	C	exonic	BRAF	.	nonsynonymous SNV	BRAF:NM_004333:exon12:c.T1454G:p.L485W	7q34	.	.	0.0	D	0.999	D	0.994	D	0.000	D	1	D	3.255	M	-2.06	D	-5.61	D	0.936	5.907	27.5	0.966	0.995	D	0.266	D	0.536	D	0.732	0	5.03	1.062	1.136	1.000	1.000	14.464	Deleterious
619	7	140778061	A	C	Pathogenic/Likely pathogenic	BRAF	.	.	.	.	.	.	.	.	.	.	7	140778061	140778061	A	C	exonic	BRAF	.	nonsynonymous SNV	BRAF:NM_004333:exon12:c.A1447G:p.K483E	7q34	.	.	0.001	D	1.0	D	0.999	D	0.000	D	1	D	3.87	H	-7.08	D	-3.71	D	0.969	6.300	29.1	0.999	0.991	D	0.533	D	0.620	D	0.732	0	5.03	0.991	1.007	1.000	0.999	14.464	Deleterious
620	7	140781602	G	A	Pathogenic	BRAF	.	.	.	.	.	.	.	.	.	.	7	140781602	140781602	G	A	exonic	BRAF	.	nonsynonymous SNV	BRAF:NM_004333:exon11:c.G1406T:p.G469V	7q34	.	rs121913355	0.0	D	1.0	D	0.999	D	0.000	D	1	D	3.685	H	-2.64	D	-8.51	D	0.988	6.897	33	0.998	0.990	D	1.028	D	0.900	D	0.615	0	5.62	0.871	0.892	1.000	1.000	17.843	Deleterious
621	7	140781605	T	C	Pathogenic	BRAF	.	.	.	.	.	.	.	.	.	.	7	140781605	140781605	T	C	exonic	BRAF	.	nonsynonymous SNV	BRAF:NM_004333:exon11:c.T1403G:p.F468C	7q34	.	.	0.0	D	0.996	D	0.959	D	0.000	D	1	D	2.31	M	-2.55	D	-7.57	D	0.987	6.019	27.9	0.994	0.992	D	-0.343	T	0.369	T	0.615	0	5.62	1.062	1.140	0.999	1.000	14.394	Tolerated
622	7	140781617	G	T	Pathogenic/Likely pathogenic	BRAF	.	.	.	.	.	.	.	.	.	.	7	140781617	140781617	G	T	exonic	BRAF	.	nonsynonymous SNV	BRAF:NM_004333:exon11:c.G1391A:p.G464E	7q34	.	rs121913348	0.0	D	1.0	D	0.99	D	0.000	D	1	D	3.59	H	-2.75	D	-7.57	D	0.998	6.860	33	0.998	0.987	D	1.013	D	0.895	D	0.706	0	5.62	0.871	0.892	0.998	1.000	17.843	Deleterious
623	7	140781617	G	A	Pathogenic/Likely pathogenic	BRAF	.	.	.	.	.	.	.	.	.	.	7	140781617	140781617	G	A	exonic	BRAF	.	nonsynonymous SNV	BRAF:NM_004333:exon11:c.G1391T:p.G464V	7q34	.	rs121913348	0.0	D	0.999	D	0.989	D	0.000	D	1	D	4.05	H	-2.77	D	-8.51	D	0.998	7.056	33	0.998	0.990	D	1.058	D	0.909	D	0.706	0	5.62	0.871	0.892	0.998	1.000	17.843	Deleterious
624	7	140801502	A	G	Pathogenic	BRAF	.	.	.	.	.	.	.	.	.	.	7	140801502	140801502	A	G	exonic	BRAF	.	nonsynonymous SNV	BRAF:NM_004333:exon6:c.A770C:p.Q257P	7q34	.	.	0.022	D	0.998	D	0.915	D	0.000	D	1	D	3.58	H	-3.38	D	-2.46	N	0.871	5.669	26.7	0.994	0.988	D	1.042	D	0.913	D	0.651	0	5.43	0.991	1.058	1.000	1.000	15.498	Deleterious
625	7	140801503	C	A	Pathogenic/Likely pathogenic	BRAF	.	.	.	.	.	.	.	.	.	.	7	140801503	140801503	C	A	exonic	BRAF	.	stopgain	BRAF:NM_004333:exon6:c.C769T:p.Q257X	7q34	.	.	.	.	.	.	.	.	0.000	D	1	A	.	.	.	.	.	.	.	12.523	39	0.998	0.984	D	.	.	.	.	0.651	0	5.43	0.917	1.045	1.000	1.000	19.258	Deleterious (FATHMM)
626	7	140801536	G	C	Pathogenic	BRAF	.	.	.	.	.	.	.	.	.	.	7	140801536	140801536	G	C	exonic	BRAF	.	synonymous SNV	BRAF:NM_004333:exon6:c.G736G:p.A246A	7q34	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
627	7	140801537	A	T	Pathogenic/Likely pathogenic	BRAF	.	.	.	.	.	.	.	.	.	.	7	140801537	140801537	A	T	exonic	BRAF	.	synonymous SNV	BRAF:NM_004333:exon6:c.A735A:p.L245L	7q34	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
628	7	140801537	A	C	Pathogenic/Likely pathogenic	BRAF	.	.	.	.	.	.	.	.	.	.	7	140801537	140801537	A	C	exonic	BRAF	.	synonymous SNV	BRAF:NM_004333:exon6:c.A735G:p.L245L	7q34	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
629	7	140801542	A	C	Pathogenic	BRAF	.	.	.	.	.	.	.	.	.	.	7	140801542	140801542	A	C	exonic	BRAF	.	nonsynonymous SNV	BRAF:NM_004333:exon6:c.A730G:p.T244A	7q34	.	.	0.151	T	0.116	B	0.1	B	0.000	N	1.000	D	0.91	L	-3.08	D	-0.46	N	0.246	1.747	14.67	0.992	0.980	D	-0.063	T	0.604	D	0.651	0	4.01	0.991	1.058	1.000	1.000	10.913	Deleterious
630	7	140801550	C	T	Pathogenic	BRAF	.	.	.	.	.	.	.	.	.	.	7	140801550	140801550	C	T	exonic	BRAF	.	nonsynonymous SNV	BRAF:NM_004333:exon6:c.C722A:p.T241K	7q34	.	rs387906660	0.0	D	1.0	D	0.998	D	0.000	D	1	D	3.385	M	-3.11	D	-4.45	D	0.941	7.009	33	0.995	0.995	D	1.050	D	0.910	D	0.476	0	5.17	0.917	1.045	0.993	0.992	18.677	Deleterious
631	7	140801551	A	C	Pathogenic/Likely pathogenic	BRAF	.	.	.	.	.	.	.	.	.	.	7	140801551	140801551	A	C	exonic	BRAF	.	nonsynonymous SNV	BRAF:NM_004333:exon6:c.A721G:p.T241A	7q34	.	.	0.0	D	0.999	D	0.978	D	0.000	D	1	D	3.125	M	-3.15	D	-3.71	D	0.8	5.110	25.3	0.999	0.989	D	1.035	D	0.905	D	0.476	0	5.17	0.991	1.058	0.995	0.997	15.024	Deleterious
632	7	141614164	C	T	Pathogenic	AGK	.	.	.	.	.	.	.	.	.	.	7	141614164	141614164	C	T	exonic	AGK	.	stopgain	AGK:NM_018238:exon7:c.C409T:p.R137X	7q34	.	rs746709222	.	.	.	.	.	.	0.000	D	1	A	.	.	.	.	.	.	.	13.259	41	0.998	0.930	D	.	.	.	.	0.651	0	5.03	-0.022	0.020	0.994	0.994	13.320	Deleterious (FATHMM)
633	7	142750600	A	T	Pathogenic	PRSS1|TRB	.	.	.	.	.	.	.	.	.	.	7	142750600	142750600	A	T	exonic	PRSS1	.	nonsynonymous SNV	PRSS1:NM_002769:exon2:c.A86T:p.N29I	7q34	.	rs111033566	0.045	D	0.0	B	0.001	B	0.000	D	0.000	A	0.965	L	-2.46	D	-1.9	N	0.271	2.306	18.21	0.912	0.722	D	-0.243	T	0.468	T	0.616	0	2.58	-0.602	-0.077	0.025	0.032	6.669	Tolerated
634	7	143323387	G	A	Pathogenic/Likely pathogenic	CLCN1	.	.	.	.	.	.	.	.	.	.	7	143323387	143323387	G	A	splicing	CLCN1	NM_000083:exon6:c.774+1G>A	.	.	7q34	.	rs776073429	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	5.362	25.9	0.995	0.985	D	.	.	.	.	0.054	0	4.27	0.917	0.953	0.996	0.997	16.962	Deleterious (FATHMM)
635	7	143332490	T	G	Pathogenic	CLCN1	.	.	.	.	.	.	.	.	.	.	7	143332490	143332490	T	G	exonic	CLCN1	.	nonsynonymous SNV	CLCN1:NM_000083:exon11:c.T1238G:p.F413C	7q34	7.7e-05	rs121912799	0.0	D	1.0	D	0.998	D	0.000	D	1.000	A	2.65	M	-3.34	D	-7.36	D	0.94	6.372	29.5	0.994	0.984	D	1.065	D	0.880	D	0.487	0	5.29	0.991	1.051	1.000	1.000	10.472	Deleterious
636	7	147903619	G	A	Pathogenic	CNTNAP2	.	.	.	.	.	.	.	.	.	.	7	147903619	147903619	G	A	exonic	CNTNAP2	.	stopgain	CNTNAP2:NM_014141:exon14:c.G2153A:p.W718X	7q35	.	rs398124268	.	.	.	.	.	.	0.000	D	1	A	.	.	.	.	.	.	.	13.270	41	0.997	0.990	D	.	.	.	.	0.487	0	5.7	0.917	1.048	0.999	0.986	18.412	Deleterious (FATHMM)
637	7	150947440	C	T	Pathogenic	KCNH2	.	.	.	.	.	.	.	.	.	.	7	150947440	150947440	C	T	exonic	KCNH2	.	synonymous SNV	KCNH2:NM_172057:exon9:c.C2020A:p.R674R,KCNH2:NM_000238:exon13:c.C3040A:p.R1014R	7q36.1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
638	7	150947478	G	A	Pathogenic	KCNH2	.	.	.	.	.	.	.	.	.	.	7	150947478	150947478	G	A	exonic	KCNH2	.	nonsynonymous SNV	KCNH2:NM_172057:exon9:c.G1982T:p.W661L,KCNH2:NM_000238:exon13:c.G3002T:p.W1001L	7q36.1	.	.	0.061	T	0.889	P	0.444	B	0.000	D	0.997	D	1.675	L	-4.88	D	-5.99	D	0.699	5.660	26.7	0.987	0.967	D	0.968	D	0.913	D	0.652	0	4.88	0.853	0.854	1.000	1.000	15.550	Deleterious
639	7	150948861	C	T	Pathogenic	KCNH2	.	.	.	.	.	.	.	.	.	.	7	150948861	150948861	C	T	exonic	KCNH2	.	synonymous SNV	KCNH2:NM_172057:exon6:c.C1567A:p.R523R,KCNH2:NM_000238:exon10:c.C2587A:p.R863R	7q36.1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
640	7	150948981	C	T	Pathogenic/Likely pathogenic, not provided	KCNH2	.	.	.	.	.	.	.	.	.	.	7	150948981	150948981	C	T	exonic	KCNH2	.	synonymous SNV	KCNH2:NM_172057:exon6:c.C1447A:p.R483R,KCNH2:NM_000238:exon10:c.C2467A:p.R823R	7q36.1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
641	7	150950246	G	T	Pathogenic/Likely pathogenic, not provided	KCNH2	.	.	.	.	.	.	.	.	.	.	7	150950246	150950246	G	T	exonic	KCNH2	.	nonsynonymous SNV	KCNH2:NM_001204798:exon5:c.G1300A:p.D434N,KCNH2:NM_172057:exon5:c.G1300A:p.D434N,KCNH2:NM_000238:exon9:c.G2320A:p.D774N,KCNH2:NM_172056:exon9:c.G2320A:p.D774N	7q36.1	.	.	0.001	D	1.0	D	0.999	D	0.000	D	1.000	D	3.34	M	-4.49	D	-4.86	D	0.346	6.820	32	0.999	0.941	D	1.098	D	0.965	D	0.534	0	4.84	0.871	0.807	1.000	0.998	15.465	Deleterious
642	7	150951442	T	C	Pathogenic	KCNH2	.	.	.	.	.	.	.	.	.	.	7	150951442	150951442	T	C	intronic	KCNH2	.	.	.	7q36.1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	probably Tolerated (Intron)
643	7	150951546	A	G	Pathogenic/Likely pathogenic, not provided	KCNH2	.	.	.	.	.	.	.	.	.	.	7	150951546	150951546	A	G	exonic	KCNH2	.	nonsynonymous SNV	KCNH2:NM_001204798:exon3:c.A827C:p.Y276S,KCNH2:NM_172057:exon3:c.A827C:p.Y276S,KCNH2:NM_000238:exon7:c.A1847C:p.Y616S,KCNH2:NM_172056:exon7:c.A1847C:p.Y616S	7q36.1	.	.	0.0	D	1.0	D	0.999	D	0.000	D	1.000	D	4.37	H	-5.28	D	-8.54	D	0.953	4.838	24.8	0.991	0.825	D	1.048	D	0.979	D	0.696	0	3.08	0.991	0.913	1.000	0.944	8.642	Deleterious
644	7	150951552	C	T	Pathogenic	KCNH2	.	.	.	.	.	.	.	.	.	.	7	150951552	150951552	C	T	exonic	KCNH2	.	nonsynonymous SNV	KCNH2:NM_001204798:exon3:c.C821A:p.A274E,KCNH2:NM_172057:exon3:c.C821A:p.A274E,KCNH2:NM_000238:exon7:c.C1841A:p.A614E,KCNH2:NM_172056:exon7:c.C1841A:p.A614E	7q36.1	.	.	0.0	D	1.0	D	0.999	D	0.000	D	1.000	D	4.12	H	-5.23	D	-4.74	D	0.982	5.478	26.2	0.995	0.973	D	1.040	D	0.981	D	0.696	0	4.33	0.917	0.902	0.981	0.190	14.341	Deleterious
645	7	150951583	G	A	Pathogenic	KCNH2	.	.	.	.	.	.	.	.	.	.	7	150951583	150951583	G	A	exonic	KCNH2	.	nonsynonymous SNV	KCNH2:NM_001204798:exon3:c.G790T:p.G264C,KCNH2:NM_172057:exon3:c.G790T:p.G264C,KCNH2:NM_000238:exon7:c.G1810T:p.G604C,KCNH2:NM_172056:exon7:c.G1810T:p.G604C	7q36.1	.	.	0.0	D	1.0	D	1.0	D	0.000	D	1.000	D	2.935	M	-4.57	D	-7.51	D	0.915	6.608	32	0.998	0.967	D	1.100	D	0.958	D	0.696	0	4.33	0.871	0.807	0.983	0.990	14.341	Deleterious
646	7	150951592	G	A	Pathogenic	KCNH2	.	.	.	.	.	.	.	.	.	.	7	150951592	150951592	G	A	exonic	KCNH2	.	nonsynonymous SNV	KCNH2:NM_001204798:exon3:c.G781T:p.G261C,KCNH2:NM_172057:exon3:c.G781T:p.G261C,KCNH2:NM_000238:exon7:c.G1801T:p.G601C,KCNH2:NM_172056:exon7:c.G1801T:p.G601C	7q36.1	.	rs199472936	0.034	D	0.998	D	0.979	D	0.010	N	0.951	D	0.925	L	-5.02	D	-2.34	N	0.853	5.073	25.3	0.998	0.864	D	0.896	D	0.904	D	0.696	0	3.37	0.871	0.807	0.992	0.969	4.649	Deleterious
647	7	150951711	C	T	Pathogenic/Likely pathogenic, not provided	KCNH2	.	.	.	.	.	.	.	.	.	.	7	150951711	150951711	C	T	exonic	KCNH2	.	nonsynonymous SNV	KCNH2:NM_001204798:exon3:c.C662A:p.A221E,KCNH2:NM_172057:exon3:c.C662A:p.A221E,KCNH2:NM_000238:exon7:c.C1682A:p.A561E,KCNH2:NM_172056:exon7:c.C1682A:p.A561E	7q36.1	.	.	0.0	D	1.0	D	0.999	D	0.000	D	1.000	D	3.815	H	-4.98	D	-4.79	D	0.944	5.872	27.4	0.996	0.989	D	1.073	D	0.974	D	0.696	0	4.44	0.917	0.902	0.994	0.784	14.592	Deleterious
648	7	150951738	T	C	Pathogenic	KCNH2	.	.	.	.	.	.	.	.	.	.	7	150951738	150951738	T	C	exonic	KCNH2	.	nonsynonymous SNV	KCNH2:NM_001204798:exon3:c.T635G:p.L212W,KCNH2:NM_172057:exon3:c.T635G:p.L212W,KCNH2:NM_000238:exon7:c.T1655G:p.L552W,KCNH2:NM_172056:exon7:c.T1655G:p.L552W	7q36.1	.	.	0.0	D	1.0	D	1.0	D	0.000	D	0.999	D	3.35	M	-5.13	D	-5.75	D	0.785	4.158	23.8	0.963	0.960	D	1.090	D	0.972	D	0.696	0	4.08	1.062	1.028	1.000	0.979	11.076	Deleterious
649	7	151560610	G	A	Pathogenic	PRKAG2	.	.	.	.	.	.	.	.	.	.	7	151560610	151560610	G	A	exonic	PRKAG2	.	nonsynonymous SNV	PRKAG2:NM_024429:exon11:c.G869T:p.R290L,PRKAG2:NM_001304531:exon12:c.G869T:p.R290L,PRKAG2:NM_001304527:exon13:c.G1217T:p.R406L,PRKAG2:NM_001040633:exon15:c.G1460T:p.R487L,PRKAG2:NM_016203:exon15:c.G1592T:p.R531L	7q36.1	.	rs121908991	0.0	D	1.0	D	1.0	D	0.000	D	1	D	3.2	M	-3.47	D	-6.44	D	0.932	8.412	35	0.999	0.994	D	1.061	D	0.932	D	0.706	0	5.8	0.871	0.935	1.000	1.000	19.042	Deleterious
650	7	151564146	G	C	Pathogenic/Likely pathogenic	PRKAG2	.	.	.	.	.	.	.	.	.	.	7	151564146	151564146	G	C	exonic	PRKAG2	.	synonymous SNV	PRKAG2:NM_024429:exon10:c.G793G:p.E265E,PRKAG2:NM_001304531:exon11:c.G793G:p.E265E,PRKAG2:NM_001304527:exon12:c.G1141G:p.E381E,PRKAG2:NM_001040633:exon14:c.G1384G:p.E462E,PRKAG2:NM_016203:exon14:c.G1516G:p.E506E	7q36.1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
651	7	151576412	G	A	Pathogenic	PRKAG2	.	.	.	.	.	.	.	.	.	.	7	151576412	151576412	G	A	exonic	PRKAG2	.	nonsynonymous SNV	PRKAG2:NM_024429:exon3:c.G182T:p.R61L,PRKAG2:NM_001304531:exon4:c.G182T:p.R61L,PRKAG2:NM_001304527:exon5:c.G530T:p.R177L,PRKAG2:NM_001040633:exon7:c.G773T:p.R258L,PRKAG2:NM_016203:exon7:c.G905T:p.R302L	7q36.1	.	rs121908987	0.023	D	0.91	P	0.552	P	0.000	D	1	D	2.75	M	-2.83	D	-6.73	D	0.987	7.090	33	0.998	0.985	D	0.742	D	0.824	D	0.707	0	4.54	0.871	0.931	0.998	0.944	13.104	Deleterious
652	8	1780415	G	A	Pathogenic/Likely pathogenic	CLN8	.	.	.	.	.	.	.	.	.	.	8	1780415	1780415	G	A	exonic	CLN8	.	nonsynonymous SNV	CLN8:NM_018941:exon3:c.G709A:p.G237R	8p23.3	.	rs746645358	0.006	D	1.0	D	1.0	D	0.000	U	1	D	1.555	L	-2.05	D	-2.63	D	0.977	6.028	27.9	0.999	0.988	D	0.391	D	0.699	D	0.707	0	5.17	0.917	1.048	0.753	0.013	18.666	Deleterious
653	8	6642993	G	C	Pathogenic/Likely pathogenic	MCPH1|MCPH1-AS1	.	.	.	.	.	.	.	.	.	.	8	6642993	6642993	G	C	splicing	MCPH1	NM_024596:exon14:c.2453-1G>C	.	.	8p23.1	.	rs587783739	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	4.544	24.3	0.994	0.908	D	.	.	.	.	0.295	0	4.82	0.917	0.912	0.983	0.993	13.751	Deleterious (FATHMM)
654	8	54625911	C	T	Pathogenic	RP1	.	.	.	.	.	.	.	.	.	.	8	54625911	54625911	C	T	exonic	RP1	.	stopgain	RP1:NM_006269:exon4:c.C2029T:p.R677X	8q12.1	.	rs104894082	.	.	.	.	.	.	0.224	N	1	A	.	.	.	.	.	.	.	8.818	35	0.996	0.705	D	.	.	.	.	0.497	0	4.79	0.871	0.892	0.882	0.402	11.832	Deleterious (FATHMM)
655	8	60741901	C	T	Pathogenic	CHD7	.	.	.	.	.	.	.	.	.	.	8	60741901	60741901	C	T	exonic	CHD7	.	stopgain	CHD7:NM_001316690:exon1:c.C469T:p.R157X,CHD7:NM_017780:exon2:c.C469T:p.R157X	8q12.2	.	rs794727293	.	.	.	.	.	.	0.006	N	1	A	.	.	.	.	.	.	.	9.820	36	0.997	0.685	D	.	.	.	.	0.737	0	4.28	-0.058	0.935	0.998	0.998	14.927	Deleterious (FATHMM)
656	8	60742897	C	T	Pathogenic	CHD7	.	.	.	.	.	.	.	.	.	.	8	60742897	60742897	C	T	exonic	CHD7	.	stopgain	CHD7:NM_001316690:exon1:c.C1465T:p.Q489X,CHD7:NM_017780:exon2:c.C1465T:p.Q489X	8q12.2	.	rs794727298	.	.	.	.	.	.	0.002	N	1	A	.	.	.	.	.	.	.	12.083	38	0.998	0.943	D	.	.	.	.	0.707	0	5.39	0.871	0.935	0.990	1.000	19.144	Deleterious (FATHMM)
657	8	60742912	C	T	Pathogenic	CHD7	.	.	.	.	.	.	.	.	.	.	8	60742912	60742912	C	T	exonic	CHD7	.	stopgain	CHD7:NM_001316690:exon1:c.C1480T:p.R494X,CHD7:NM_017780:exon2:c.C1480T:p.R494X	8q12.2	.	rs587783429	.	.	.	.	.	.	0.008	N	1	A	.	.	.	.	.	.	.	12.173	38	0.998	0.774	D	.	.	.	.	0.707	0	5.39	0.871	0.935	0.997	1.000	14.038	Deleterious (FATHMM)
658	8	60822627	A	G	Pathogenic	CHD7	.	.	.	.	.	.	.	.	.	.	8	60822627	60822627	A	G	exonic	CHD7	.	nonsynonymous SNV	CHD7:NM_017780:exon12:c.A3082G:p.I1028V	8q12.2	.	rs121434338	0.048	D	0.752	P	0.894	P	0.000	D	1	A	0.425	N	-3.22	D	-0.89	N	0.812	4.949	25.0	0.999	0.988	D	0.815	D	0.790	D	0.732	0	5.53	1.062	1.199	1.000	1.000	15.951	Deleterious
659	8	60838115	C	T	Pathogenic	CHD7	.	.	.	.	.	.	.	.	.	.	8	60838115	60838115	C	T	exonic	CHD7	.	stopgain	CHD7:NM_017780:exon19:c.C4393T:p.R1465X	8q12.2	.	.	.	.	.	.	.	.	0.000	D	1	A	.	.	.	.	.	.	.	14.204	45	0.998	0.912	D	.	.	.	.	0.707	0	5.32	0.871	0.935	0.995	0.996	15.036	Deleterious (FATHMM)
660	8	60838202	C	T	Pathogenic	CHD7	.	.	.	.	.	.	.	.	.	.	8	60838202	60838202	C	T	exonic	CHD7	.	stopgain	CHD7:NM_017780:exon19:c.C4480T:p.R1494X	8q12.2	.	rs587783442	.	.	.	.	.	.	0.000	D	1	A	.	.	.	.	.	.	.	14.172	45	0.998	0.948	D	.	.	.	.	0.707	0	4.42	0.871	0.935	0.961	0.915	15.398	Deleterious (FATHMM)
661	8	60850486	G	A	Pathogenic	CHD7	.	.	.	.	.	.	.	.	.	.	8	60850486	60850486	G	A	intronic	CHD7	.	.	.	8q12.2	.	rs398124321	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	probably Tolerated (Intron)
662	8	60850546	C	T	Pathogenic	CHD7	.	.	.	.	.	.	.	.	.	.	8	60850546	60850546	C	T	exonic	CHD7	.	stopgain	CHD7:NM_017780:exon26:c.C5458T:p.R1820X	8q12.2	.	rs587783446	.	.	.	.	.	.	0.000	D	1	A	.	.	.	.	.	.	.	14.195	45	0.998	0.960	D	.	.	.	.	0.722	0	5.49	0.871	0.935	1.000	1.000	14.236	Deleterious (FATHMM)
663	8	60852682	C	T	Pathogenic	CHD7	.	.	.	.	.	.	.	.	.	.	8	60852682	60852682	C	T	exonic	CHD7	.	stopgain	CHD7:NM_017780:exon30:c.C6079T:p.R2027X	8q12.2	.	.	.	.	.	.	.	.	0.000	D	1	A	.	.	.	.	.	.	.	12.447	39	0.997	0.991	D	.	.	.	.	0.707	0	3.64	0.871	-0.424	0.996	0.991	14.487	Deleterious (FATHMM)
664	8	60852882	C	T	Pathogenic	CHD7	.	.	.	.	.	.	.	.	.	.	8	60852882	60852882	C	T	exonic	CHD7	.	stopgain	CHD7:NM_017780:exon31:c.C6157T:p.R2053X	8q12.2	.	rs587783450	.	.	.	.	.	.	0.000	D	1	A	.	.	.	.	.	.	.	11.115	37	0.996	0.914	D	.	.	.	.	0.707	0	2.85	0.067	0.182	0.790	0.188	12.740	Deleterious (FATHMM)
665	8	60854437	C	T	Pathogenic	CHD7	.	.	.	.	.	.	.	.	.	.	8	60854437	60854437	C	T	exonic	CHD7	.	stopgain	CHD7:NM_017780:exon32:c.C6850T:p.R2284X	8q12.2	.	rs587783454	.	.	.	.	.	.	0.000	D	1	A	.	.	.	.	.	.	.	15.585	51	0.998	0.894	D	.	.	.	.	0.737	0	5.79	0.871	0.852	1.000	1.000	14.817	Deleterious (FATHMM)
666	8	60862256	C	T	Pathogenic	CHD7	.	.	.	.	.	.	.	.	.	.	8	60862256	60862256	C	T	exonic	CHD7	.	stopgain	CHD7:NM_001316690:exon3:c.C1744T:p.R582X,CHD7:NM_017780:exon36:c.C7891T:p.R2631X	8q12.2	.	rs587783457	.	.	.	.	.	.	0.000	D	1	A	.	.	.	.	.	.	.	16.166	54	0.998	0.994	D	.	.	.	.	0.707	0	5.56	0.871	0.931	1.000	1.000	19.601	Deleterious (FATHMM)
667	8	64596913	G	A	Pathogenic	CYP7B1	.	.	.	.	.	.	.	.	.	.	8	64596913	64596913	G	A	exonic	CYP7B1	.	nonsynonymous SNV	CYP7B1:NM_004820:exon6:c.G1250T:p.R417L	8q12.3	.	.	0.0	D	1.0	D	1.0	D	0.000	D	1.000	D	4.065	H	-4.29	D	-6.74	D	0.986	8.537	35	0.999	0.994	D	1.085	D	0.970	D	0.554	0	5.22	0.871	0.935	0.997	0.994	18.762	Deleterious
668	8	64616207	C	T	Pathogenic	CYP7B1	.	.	.	.	.	.	.	.	.	.	8	64616207	64616207	C	T	exonic	CYP7B1	.	synonymous SNV	CYP7B1:NM_004820:exon3:c.C334A:p.R112R	8q12.3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
669	8	74360184	C	T	Pathogenic	GDAP1	.	.	.	.	.	.	.	.	.	.	8	74360184	74360184	C	T	exonic	GDAP1	.	nonsynonymous SNV	GDAP1:NM_001040875:exon3:c.C154T:p.R52W,GDAP1:NM_018972:exon3:c.C358T:p.R120W	8q21.11	.	rs104894078	0.001	D	1.0	D	0.997	D	0.000	D	1.000	A	1.7	L	-5.45	D	-3.41	D	0.991	7.361	34	0.999	0.864	D	1.139	D	0.967	D	0.706	0	4.64	0.871	0.935	1.000	0.993	12.452	Deleterious
670	8	74361886	C	T	Pathogenic	GDAP1	.	.	.	.	.	.	.	.	.	.	8	74361886	74361886	C	T	exonic	GDAP1	.	stopgain	GDAP1:NM_001040875:exon4:c.C283T:p.Q95X,GDAP1:NM_018972:exon4:c.C487T:p.Q163X	8q21.11	.	rs104894077	.	.	.	.	.	.	0.000	D	1	A	.	.	.	.	.	.	.	12.877	40	0.998	0.978	D	.	.	.	.	0.732	0	5.27	0.871	0.935	0.999	0.999	19.088	Deleterious (FATHMM)
671	8	86625982	G	A	Pathogenic/Likely pathogenic	CNGB3	.	.	.	.	.	.	.	.	.	.	8	86625982	86625982	G	A	splicing	CNGB3	NM_019098:exon13:c.1578+1C>T	.	.	8q21.3	.	.	.	.	.	.	.	.	.	.	1	D	.	.	.	.	.	.	.	6.135	28.4	0.996	0.997	D	.	.	.	.	0.061	0	5.37	0.871	0.935	0.981	0.994	19.113	Deleterious (FATHMM)
672	8	86643810	G	A	Pathogenic/Likely pathogenic	CNGB3	.	.	.	.	.	.	.	.	.	.	8	86643810	86643810	G	A	exonic	CNGB3	.	nonsynonymous SNV	CNGB3:NM_019098:exon10:c.G1119T:p.W373C	8q21.3	.	.	0.083	T	0.18	B	0.191	B	0.000	D	1	D	2.585	M	-4.39	D	-11.47	D	0.485	3.894	23.5	0.977	0.947	D	0.897	D	0.897	D	0.487	0	4.55	0.871	0.852	1.000	1.000	14.159	Deleterious
673	8	89943297	C	T	Pathogenic	NBN	.	.	.	.	.	.	.	.	.	.	8	89943297	89943297	C	T	exonic	NBN	.	synonymous SNV	NBN:NM_002485:exon14:c.C2140A:p.R714R,NBN:NM_001024688:exon15:c.C1894A:p.R632R	8q21.3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)
674	8	89943320	C	G	Pathogenic	NBN	.	.	.	.	.	.	.	.	.	.	8	89943320	89943320	C	G	exonic	NBN	.	synonymous SNV	NBN:NM_002485:exon14:c.C2117C:p.S706S,NBN:NM_001024688:exon15:c.C1871C:p.S624S	8q21.3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerated (synonymous)